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Accepted for publication: v:s 177J o» xvui^ui a u , oasia July 14, 1995 0301-0171/95/0712-0105$8.00/0 Report of the third international workshop on human chromosome 18 mapping 1995
Prepared by J. Overhauser,1 G.A. Silverman,2 S. Gerken,3 and A. Geurts van Kessel4
1 2 3 Thomas Jefferson University, Philadelphia PA, Harvard Medical School, Boston MA, University of Utah, Salt Lake City UT (USA), University Hospital, Nijmegen (The Netherlands)
The third international workshop on human chromosome Since the second international workshop on human 18 mapping was held in Philadelphia PA, USA on May 8-9, chromosome 18 mapping, July 19-20, 1993 (Geurts van 1995, and was hosted by Thomas Jefferson University. The Kessel et al., 1994), 14 new genes have been assigned to workshop was attended by 28 participants from 6 countries chromosome 18 and include RLCA, RLCB, ERGIC-53, (United States, The Netherlands, Italy, United Kingdom, SCCA1, SCCA2, MASPIN, MCR5, NFATC1, NFATC2, Germany, and Japan), and was supported by the National DSC1, DSC2, DSC3, SYT, and MEP1B. Refined Institutes of Health, Department of Energy, HUGO, and the localizations were obtained for holoprosencephaly, Niemann Netherlands Organization for Scientific Research (NWO). Pick Type C, ACTH receptor, bipolar disease and familial The major goals of the workshop were: 1) to assimilate the expansile osteolysis. Several new diseases were mapped to latest information on the mapping of disease-related genes on chromosome 18 including familial hypertrophic chromosome 18; 2) to prepare consensus genetic and cardiomyopathy, a second bipolar disease locus, a second physical maps, both at the regional and chromosomal level; Niemann Pick Type C locus, benign recurrent intrahepatic 3) to document resources that are available to the cholestasis, and progressive familial intrahepatic cholestasis, chromosome 18 mapping community; 4) to foster A total of 5 single locus and 13 multilocus Y AC contigs collaborations between investigators that have mapping were described, including the markers D18S460, D18S470, efforts involving chromosome 18; and 5) to ensure that the D18S484, D18S64, BCL2, D18S466, D18S485, D18S469, Human Genome Data Base is up-to-date through the entry of D18S380, MBP, and DSG. Two of the contigs partially information derived from data presented at the workshop. overlap (D18S64 and MBP). The DSG contig encompasses Data from all of the participants were collected at the all DSG (3) and DSC (3) loci as well as TTR. Two beginning of the meeting. This information was photocopied overlapping YACs contain four serpin One of the and distributed among all participants. Short presentations D18S64 contigs spans the familial expansile were made by each participant to provide the most current candidate region and one of the MBP contigs spans the 18q mapping data and disease gene identifications. Several syndrome minimal critical region. presentations reported on efforts to physically and genetically The number of D segments increased to and map the chromosome. Working groups were formed to number of STSs to 1514. prepare consensus genetic and physical maps for each region of the chromosome as well as to integrate these maps wherever possible. The genetic map
Various laboratories have been involved in large scale ______efforts to create high-resolution genetic maps for all of the human chromosomes. Several such maps have been Corresponding Author: Dr. Joan Overhauser, Department of published since the second international workshop (Gyapay Biochemistry and Molecular Biology, Thomas Jefferson University, et al., 1994; BuetOW et al., 1994; Utah, in press). Four 233 South 10th Street, Philadelphia PA 19107; telephone: 215-955- genetic linkage maps spanning chromosome 18 were 5188; fax: 215-923-9162; e-mail: [email protected] presented at the meeting. As part of a genetic analysis of the association of loci on chromosome 18 with bipolar disorder
106 Cytogenet Cell Genet, Vol. 71,1995 CHROMOSOME A B maps, the Utah markers were localized to meiotic bins on the 1 8 CHLC framework map (Fig. 1).
D18S52 ATA14B09 QATA88A12 D185818 Linkage maps flanking the ACTHR/MC2 locus (Sevilla D18S344 Detera-Wadleigh, NIH, Bethesda MA), the familial D18S391 D18S62 cholestasis (PFTC/BRIC) locus (Nelson Freimer, UCSF, San
GATA116D12 Francisco CA), the Niemann-Pick type C locus (Eugene ACT1A01 D18S378 GATA82D03 D18S542 Carstea, NIH, Bethesda MD), and the familial expansile D18S53 GCT5D07 osteolysis (FEO) locus (Anne Hughes, Queen’s University of
D18S71 Belfast, Belfast, UK) were presented. A discrepancy in the order of D18S499 and D18S64 was reported. Based upon f I D18SB8 GATA30C02 I linkage analysis in the FEO family, physical mapping data GATA85D10 D10S81Ö from the CEPIi YAC libraries, and the radiation-reduced ______D GATA64H04 D10SBÖ7 D18S56 GATA25H01 somatic cell hybrid panel, the consensus order of cen~S64- ATA24GO0 ATA3SH02 D183820 GATA28D12 D18SS36 GATA24 D18S384 S38-S499-S60~tel was reached. D18S57 GATA85BQ7 IGATA81E12 GATA72G11 Integration of the physical and genetic maps at cen- D18S535 GATA51FO0 ATA28E01 ATA28G01 GATA73DÛS ATAfiBOa D18S81B D18S65 D18S548 D18S68-D18S55-PAI2-tel was reported by Gary Silverman D18S530 GATA06 (Harvard Medical School, Boston MA). D18S68 and PAI2 ATA23G0S D18S39 GATA91A02 D18S383 were localized on yA211F5 (Silverman et al., 1991). PAI2 GAAT1E07 was estimated to be 200-300 kbp proximal to D18S55. This GATA92C08 latter marker mapped to yA46F2. Also, D18S484 localized D18S64 GATA30B03 D18S495 ATA23B08 D18S817 within the 5' region of the DCC locus on y26CB8 (Cho et al., GATA26C03 D18S392 D18S51 GATA52H04 018S382 1994). GATA69F01 D18S346 D18S537 D18S8JL4 A panel of meiotic breakpoints in the CEPH reference GATA2E08 D1ÖS390 GATA27H10 D18S541 D18S815 families was described by Steve Gerken (University of Utah, GAT10A09 D18S541 GATA52A09 GATA51F05 ATA40H06 Salt Lake City UT) (Fig. 2). The utility of the meiotic ATA1H06 GATA53B01 D18S386.D18S821 D18S30O.D18S812 breakpoint mapping panels for ordering new genetic markers D18S7Û IATA40D10 and the rapid construction of high-resolution genetic maps was discussed. Fig. 1. An integrated genetic map of chromosome 18. The Selection of a set of “reference markers” for chromosome framework genetic map of 13 markers (Murray et al., 1994) was used to localize the new STRP markers for chromosome 18. (A) The best 18 was determined to be no longer locations for 48 new CHLC tri- and tetra-nucleotide STRPs are determination was based upon the report that completion of indicated by the vertical lines. The locations were determined for each the physical map on Chromosome 18 WHS expected within the new marker using a recombination minimization algorithm. (B) The next tWO years and the fact that the majority Of the STRP method of location scores (Lathrop et al., 1985) was used to determine markers are -based, are on tine physical map and detect the 100:1 odds interval for 25 Utah (Utah Marker Development Group, loci with heterozygosities greater than 0.70. in press) di- and tetra-nucleotide STRPs. The most likely locations are shown by the lines. The physical map
The resolution physical map of chromosome 18 has been greatly i by the availability of human YAC libraries and clones to all scientists as well as die concerted (BP), two linkage maps of chromosome 18 were constructed » to map STSs and ¿s to a s with genotypic data collected in the BP Berrittini, Thomas Jefferson University, Philadelphia PA; A somatic hybrid mapping panel comprised of Colin Stine, Johns Hopkins University, Baltimore MD). The cell was by Joan order of markers reported in bodi studies was consistent with (Thomas University, Philadelphia previous reports. mapping panel divides the chromosome into 33 bins. All of Two linkage maps spanning chromosome 18 were the Genethon STRs, Utah STRs, and published genes have constructed with the CEPH reference been mapped using this set of somatic cell hybrids (Rojas and reported the localization of 48 new tri- and tetra-nucleotide Qverhauser, 1993; Gerken et al., 1994; Rojas el al., 1995). A STRPs using the CIILC framework map (Ken Buetow, Fox composite map containing this information was presented Chase Cancer Center, Philadelphia PA). The Utah marker 3) development group described a linkage map comprised of 26 Two panels of radiation-reduced somatic cell hybrids new STRPs that spanned 118 cM (Steve Gerken, University were described by Robin Leach (University of Texas Medical of Utah, Salt Lake City UT). In order to integrate these two
Cytogenet Cell Genet, Vol. 71,1995 107 FISH Somatic Cell Hybrids f D18S476 1332-12p 1347-1 Qm A B C 11.32 1347-16m r 13Q2*Qp 833 S 1413-3p r o t o i4ta-6p O > S170 S170 i4ia-flp to > 3498 S100 S3 CD S59 S92 11.31 064'7p CO to « 1 S478 88, * n TYMS 384-1 Op rvj a CO S54 YËS1 834*14m s 3459 S07 D18S62 s 8 2 S63 8510 > 1331 -7m CD ' *3 JB $52 PACAP 1331-10m S471 SS02 11.23 CO 1331*1 6m SÖ2 S534 " •^ o 1 1332-3p S301 S503 1 1 . §3O ) .w 1332*5p 8 2 S4S2 S377 m3 37 8 1332-1 Op “ 3 S3 1362-6m if} 8-1 S16 1362-1 Om m ■x 3 t n -S S21 11 .21 1362-1 2m t o 1362-17p I c o 8 ' nn «j CO m w 1331-3m . « 3 1331-Öm a 11 .1 1332-5m m •sí 1347»4m «$ O 1347-öm 03 m c n 11 .1 1347-11m » 136S-3m 3 1382-Sm » 1362-17m CD 1416-öp 5 1 1 .2 1410*15m CD 884-3m U I m 6B4-5m ro 884-flm co 1331 -6m ♦ S378 1331 -17m æ g foai -ww 8458 ERV1 1332-3m 40 S484 GNAU ro A 0 ) t 8 12.1 1332-4m ro m " o> » I SS3~ PTPN2 1347-6m ro& o8 S482 S37 1347-Sm S73 1347-Bm S71 S453 1347-1 Om § 4 r o 1347-11m j n 12.2 CO 1413-3m CO 0) S377 1413-4m i o f O m S40 1413-5p g 1413-17m
1416-3m O 1 2.3 CO CO 1416-5m ro 0 U 1 Ö 1416-15p X Ct 1418-15m o1 4 804-4m oCO tt 0) N (J —h ^ 884-7m 0 w to ro
884-12m K £CO » < 0 CO 1 K w O co * 21.1 1331-3p CO 133l-7m m 4 1331-0m •si 1331-11m mat 1347-3p 21.2 1347-11m 1347-1 6m Hh 13B2-3p 21.31 1362-3m 2 1 .3 2 1382-5m Fig. 3. The physical map of chromosome 18. Consensus physical 1362-Bp 21 .33 1302-7m maps are displayed next to an ideogram of human chromosome 18. 1362-1 Op FISH map: the localization of 60 cosmids (Nakashima et al., 1994) is 1418-3p I418-7m depicted next to the ideogram. The cosmids are grouped into 8 regions 22.1 1416-8m 884-l2p relative to the standard banding pattern. Somatic cell hybrid map: The
1331-6m chromosome has been divided into 26 bins using a deletion mapping I332*7p panel of somatic cell hybrids. The approximate location of the deletion 1347-1 Op 22.2 884-flp breakpoints are depicted by arrows. Column A contains markers that GÖ4-0P 884-13p have not been ordered within the bin. Column B contains simple 22.3 884*l4p 1331 *5p sequence repeats that have been ordered using linkage analysis. Column 1331-Op C contains markers that have been mapped to bins and ordered 1331 -10p 1331 *1Bp separately using radiation hybrids. For boxed markers see Fig. 2. 1331 *17p 23 1332.4m 884-6P Û84'7p 884-11p v J D18S70
Fig. 2. Meiotic breakpoint map of chromosome 18. Center, San Antonio TX). The first panel was constructed The grandparental phase-known obligate recombinant after fusion of irradiated (7000 rads) HHW324 (human chromosomes detected for chromosome 18 in eight of chromosome 18 only hybrid cell line) and ATS549tg cells. A the CEPH reference families are shown. The CEPH total of 122 hybrids were isolated from this fusion. A second kindred, the sib in the kinship and whether the paternal panel was constructed using 4000 rads with the same or maternal chromosome carries the meiotic breakpoint is reported. The interval in the CHLC framework map parental cell lines. A total of 83 hybrids was isolated. Forty- where the meiotic breakpoint was detected is shown three markers from the 18q region were localized through (also boxed in Fig. 3). the panel and a preliminary map was presented.
108 Cytogenet Cell Genet, Vol. 71,199 5 FISH Somatic Cell Hybrids FISH Somatic Cell Hybrids
A B c A B c c wwwwwww 872 i 8387 < 346 8-45 S45 I «l om ■* g * g * iw a * ' / A 84 B 8SAV1 £ S44 S11 COCOCOCOC/SCOCOCOlO1 8460 i 8526 844 U W M fO to > 8455 » S524 N> co^ro'ij^OQOic 8450 t »2 516 * i m « » -* * 8474 ¡8 ■“ CO CO CO CO CO 0) CO * r* « 517 & £} ro m ro •* ** 8479 -* O s) ® a ‘•J O) 8472 ♦ (a $ sj ^ a O fO W N • # * * • *■ • 8470 « 53 P 3473 i n 'J* c ro i °> s WWW 01 l S101 ro « 38 (fi K IS o ro iff O -* ■ ♦ 8523 CO ££C N*M
335 « w 487 ro »8888888. i SasôsSS^-n « 39 M W ‘ 141 * ro 8 8g. S363 « * «-(ÛNOiONX 4 I • « « « » •N * i ro in s <**+* ro 3381 * * 03 3 w *aà I3< sn 0Ï « £0 «nh k 4 RP 600 N> 8607 Cfl CO Sfi s4v w*fs : s N *• 1 ; & »¡8 * Vi** .Id.' I «N À H46 879 m m 8302 ► 8392 i rFTie « 8SÛ4 383 155 3346 361 IBS f 42 862 314 1362 PLANH2 342 oo « 00 ro 860 ro 1 «
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Fig. 3. continued
A set of 60 cosmids, physically mapped to chromosome Texas Medical Center, San Antonio TX) described an 18 using fluorescent in situ hybridization (FISH) in approach that involves querying of the CEPH/Genethon conjunction with R- or DAPI-banding (Fig. 3), was described Quickmap database using the least stringent confidence by Takashi Imamura (National Institute of Genetics, criteria (level 7). Approximately 600 YACs were identified Mishima, Japan) (Nakashima et al., 1994). and individually arrayed in 96-well plates. These YACs were An approach to develop complete STS-content based tested for STS content with 90 distal chromosome 18q STSs. maps was presented by Ken Krauter (Albert Einstein College More than 250 YACs yielded positive signals for these STSs. of Medicine, Bronx NY). The approach described utilizes the The STS and YAC data were analyzed by Segmap and a Quickmap-based Pooling Strategy (QPS) and has been linear order was inferred. Sixty-four STS markers were worked out for the mapping of chromosome 12. With this ordered into 10 multilocus contigs. These contigs were pooling strategy, it has been shown that fewer than 60 PCR ordered and oriented using the chromosome 18 genetic map. reactions are needed to identify all YACs containing a It was estimated that these contigs span approximately 70% specific marker. The pooling strategy has been modeled for of the 18q21—>qter region chromosome 18 and approximately 1800 YACs associated Progress in constructing a complete physical map of with chromosome 18 could be identified. chromosome 18 by the Whitehead Institute/MIT Center for To generate an integrated physical map for the 18q~ Genome Research was by Gary Silverman deletion syndrome region, PeterS O’Connell (University of (representing Tom Hudson, Lincoln Stein and Eric Lander). Using STS-content mapping and the mega-size CEPH YAC
Cytogenet Cell Genet, Vol. 71,1995 109 assembled. As of the March Synovial sarcoma number The t(X;18)(pll.2;qll.2) is the cytogenetic hallmark of (total (total They sarcomas. coverage of 90-95% of chromosome containing breakpoint X and 18 isolated through positional cloning (de Leeuw et al., 1994) was described by Ad Geurts van (University Hospital, Disease studies Nijmegen, The Netherlands). In addition, a chimeric (X;18) cDNA clone was isolated (Clark et al., 1994) and the Holoprosencephaly contributing genes were referred to as SYT (chromosome 18) developmental and SSX (X chromosome). Subsequent sequencing of RT- midface. Maximilian Muenke PCR products from a series of synovial sarcomas revealed Hospital of Philadelphia, Philadelphia PA) presented the two alternative fusion products, SYT-SSX1 and SYT-SSX2, characterization of 6 patients with 18p deletions and that relate to the occurrence of two different breakpoints in holoprosencephaly (HPE). The critical region for HPE could Xpll.2 (de Leeuw et al., 1995). These different breakpoints narrowed to pter—»18pl 1 correlate with histologies of tumors, i.e. biphasic versus monophasic, respectively. Bipolar Affective disorder Two genetic linkage studies involving bipolar affective Familial Cholestasis disorder (BP) were presented. Wade Berrettini (Thomas Two forms of familial cholestasis have been assigned to Jefferson University, Philadelphia PA) reported evidence for 18q21.3 through a search for shared segments, a linkage a pericentromeric locus in 22 bipolar kindreds, using affected disequilibrium based approach (identity by descent). Benign sib-pair and pedigree-member methods (multipoint APM P recurrent intrahepatic cholestasis (BRIC) was localized 10-6). Colin Stine (John Hopkins University, Baltimore, through studies of Dutch pedigrees, as discussed by Roderick MD) also reported affected sib-pair results supporting Houwen (Wilhelmina Kinderziekenhuis, Utrecht, The linkage to this same region (P = 10-4). In addition, sib-pair Netherlands) (Houwen et al., 1994). Nelson Freimer and lod score results suggest linkage to 18q, near D18S38, (University of California, San Francisco CA) described the but only when the disease is transmitted through fathers localization of a clinically distinct disorder, progressive (multipoint lod score 3.54 in paternal pedigrees), familial intrahepatic cholestasis (PFIC) or Byler disease Candidate genes in the implicated regions include Golf and using samples drawn from the Amish kindred in which the MC2R (18p), and N-cadherin and RED-1 (18q). disorder was first described (Carlton et al., in press). The characterization of the ACTHR gene as a possible Through observation of recombinations, haplotype sharing candidate for BP was described by Sevilla Detera-Wadleigh among patients, and linkage the (NIH, Bethesda, MD). An SSCP was previously identified in disease and marker region the 3' untranslated region of the ACTHR gene (18pll.2, encompassing both BRIC and PFIC has (Gantz et al., 1993). This polymorphism was used for the between D18S64 and D18S60, a distance of less than 7 cM. genetic localization of the gene. The following maps were derived using the CEPH pedigrees and 22 bipolar pedigrees: Familial Expansile Osteolysis D18S53-7.8 cM-ACTHR-5.9 cM-D18S66-15.05 cM- Familial osteolysis (FEO) is a very rare D18S72 and D18S37-1.6 cM-D18S53-2.6 cM-D18S40-3.2 autosomal dominant bone dysplasia. Anne cM-D 18S45-3.7 cM-D18S44-9.8 CM-D18S66. These University of results indicate that ACTHR is within the region of linkage localization of the significance to BP (Berrettini et al., 1994). Affected sib-pair between DI8S383 and D18S483 at .2—hi21.3. A analysis under the status model, which includes bipolare, con tig of the region has been constructed, schizoaffectives and unipolare as ill, gave a /’-value of 0.023. The ACTHR gene in 22 unrelated bipolars is being Colorectal Cancer sequenced to search for mutations. A new homozygous deletion in a colorectal tumor that has been identified by representational difference analysis Niemann-Pick type C (RDA) was described bv Traci Mansfield (Yale University. Niemann-Pick disease type C (NPC) is an autosomal New Haven CT) . This deletion spans a minimum region of recessive lipid storage disorder. Refined localization of the Mb and is located in 18q21.2-*q21 disease gene was discussed by Eugene Carstea (NIH, to and does not include the DCC region in 18q21.1. Three MD) expressed sequences have been identified by cDNA selection between the markers D18S44 which map to this deleted region. One of these sequences band 18qll. represents the gene ERGIC-53, a 53-kDa membrane protein of theER-Golgi intermediate compartment. A CEPH Y AC
1 1 0 Cytogcnet Cell Genet, Vol. 71,1995 Tumor-associated regions Constitutional aneupiotdy syndromes Metabolic and related diseases
HPE 11.32 FHCM familial glucorticoid deficiency'1 (MC2R) 11.31 18p- syndrome P ring 18 isochrome 18p 11.2 mitochondrial encephalopathy
1 .1 bipolar disorders 1 ' .1 I I 11.2 NPC synovial sarcoma *{SYT) trisomy 18q syndrome I pemphigus vulgaris *(DSG3) 12,1 Interstitial 18 (pemphigus foliaceus *(D$Q1) deletion 12,2 syndrome trisomy 18 familial amyloidosis/ polyneuropatry *(777?) 12,3 colorectal, I gastrointestinal, and 21.1 pancreatic carcinoma "(DCC) schizophrenia I I Isochrome Q MALT lymphoma 21.2 18q BRIG protoporphyria *(FECH) i PFIC 21.3 follicular lymphoma *{BCL2, FVT1) I FEO I HNSCC 22 prostate carcinoma I 18q- syndrome ovarian carcinoma I ring 18 duplication 18q Tourette syndrome breast carcinoma I syndrome I 23 methemoglobinemia *(GYB5) 18
Fig. 4. Diseases associated with chromosome 18. The approximate chromosomal location of the disease is indicated by a vertical line. Candidate genes for certain diseases are identified by an asterisk with the gene symbol in parentheses. Regions duplicated or deleted in aneuploidy syndromes are depicted by solid or dotted lines, respectively (adapted from Silverman and Overhauser, in press). conlig has been that spans Uhe homozygous cause TTR HA and show extremely variable phenotypes, deletion. including peripheral neuropathy, vitreous opacities and cardiomyopathy. Alessandra Ferlini (ITBA CNR, Milan, Schizophrenia Italy) described a molecular analysis of 22 families. In 12 of Giorgio Sirugo (Yale University, New Haven CT) the Met30 mutation was whereas in reported the detection by RED (Repeat Expansion Detection) another six the Ala47, Gln89 of a very unstable (CTG)n dynamic mutation in a Danish mutations were detected (Ferlini et al., 1992; Ferlini et al., schizophrenia kindred. However, other affected individuals 1994). Two new unreported missense mutations causing from this kindred and from other Danish kindreds did not Thr34 and Serl25 substitutions were the have significantly expanded (CTG)„ repeats in their genome. second one to an cardiomyopathy The repeat was mapped to 18q21 by FISH. findings indicate that the i is extremely prone to missense mutations, highly Tourette Syndrome Tourette syndrome (TS) is a neuropsychiatrie disorder characterized by the childhood onset of motor and vocal tics. In an to a ct ate TS I breakpoints of 26 w m p u v i by Boghosian-Sell (Thomas Jefferson University, Philadelphia Gordon PA) a family with a t(7;18)(q22;q22.3) PA). This analysis was pe translocation which segregates with features of TS. A cosmid chromosome 18-specific lambda phage clones, which had that spans the translocation breakpoint was described and previously been mapped to distinct regions of chromosome several putative exons have tli at map on 18, as for A critical region the I8q either side of the chromosome 18 breakpoint region. syndrome mapping to the distal most portion of the long arm of the was of Transthyretin related hereditary amyloidoses critical region containing one gap was also described. The transthyretin related hereditary amyloidoses (TTR A map showing the locations of diseases on chromosome HA) are a group of autosomal dominant diseases associated 18 is shown in Fig. 4. with missense mutations in the TTR gene, which maps to 18ql2. These missense mutations (more than 40 discovered)
Cytogcnct Cell Genet, Vol. 71,1995 HI Gene Analyses Other Genes
G-olf a gene A Fifth melanocortin receptor (MCR5) (Chowdhary et al., The G-olf gene is a member of the G-protein family. The 1995), two transcription factors, NFATC1 and NFATC2 (Li human G-olf a gene is located on chromosome 18pll, a et al., 1995), and a cell membrane, oligomeric metalloendo- region that has been linked to bipolar illness in some of the peptidase, MEP1B (Bond et al., 1995), were mapped to families (Berrettini et al., 1994). The human chromosome chromosome 18. 18-specific cosmid library (Lawrence Livermore National Laboratory, CA) was screened with human G-olf a cDNA probes. Fifteen cosmid clones were obtained that span the Comparative Mapping gene. Regions containing all 12 exons were sequenced and described by Leena Ala-Kokka (Thomas Jefferson University, The relationships between human chromosome 18 and Philadelphia PA). the mouse genome were presented by David Kohrman (University of Michigan, Ann Arbor MI) (Fig. 5). Most Cadherin gene family genes mapped to human chromosome 18 are located within a proximal (~10 cM) and a distal (~ 20 cM) cluster of genes on The desmogleins (DSG) and desmocollins (DSC) are ■ members of the cadherin superfamily of calcium-dependent mouse chromosome 18 (Fig. 5). The proximal and distal adhesive glycoproteins. Joachim Amemann (Institute for clusters correspond to the human 18q 11—>ql2 and Human Genetics, Frankfurt, Germany) described the 18pll-*q23 regions, respectively. Small segments on mouse genomic organization of 6 members of this superfamily and chromosomes 1 and 17 contain regions syntenic to the determined the order: (DSG2-DSG3-DSG1-DSC1-DSC2- human BCL2-PLANH2 locus at 18q21.3-»q22 and the DSC3) (Simrak et al., 1995). Transcription of the gene LAMA1 loci at 18p ll, respectively. clusters occurs in opposite directions, suggesting the Two mouse mutations, Twirler (7vt>; dysplasia of the nasal presence of a shared locus control region in-between the two bones, cleft palate, labyrinthine hypoplasia and obesity) and clu sters. ataxia (ax; progressive paralysis) map ~3 cM from the centromere (Griffith et al., manuscript in preparation). Regulatory Light Chain Genes Microsatellite markers developed from corresponding human Analysis of two regulatory light chain genes (RLCA and lambda clones mapped to 18qll by FISH, genetic linkage RLCB) performed by Akinori Kimura (Tokyo Medical and using the CEPH pedigrees and or somatic cell hybrid panels. Dental University, Tokyo, Japan) was presented by Joan Other mouse mutants with homologs predicted to reside on Overhauser. The two genes were isolated based on the human chromosome 18 are balding (bat, hair loss, homology to rat cDNA clones. Two transcripts were immunologic defects), sphingomyelinosis (spm; progressive identified for the RLCA gene. One transcript was ubiquitously expressed, while the other transcript, a result of (sy; deaf, circler, degeneration of membranous labyrinth), alternative promoter usage, was muscle-specific. The chronic multifocal osteoyelitis (cmo; bone inflammation) and potential involvement of these genes in familial hypertrophic shiverer (shi, mutation of the myelin basic protein). cardiomyopathy (FHCM) was discussed. Resources Serpin gene family Four members of the serine proteinase inhibitor (serpin) Cell Lines family mapping to 18q21.3 were described by Gary A panel of somatic cell hybrids that allows for the Silverman (Harvard Medical School, Boston MA). MASPIN, squamous cell carcinoma antigen 2 (SCCA2), squamous cell carcinoma antigen 1 (SCCA1) and plasminogen activator inhibitor type 2 (PAI2/PLANH2) are oriented centromeric to telomeric, respectively, within a 300-kb interval (Schneider et al., 1995). This interval maps 300 kb telomeric to BCL2. the long arm of chromosome 18. Three of the serpin, (MASPIN, SCCA2, and SCCA1) are Genomic DNAs from the somatic cell hybrid deletion contained within a single YAC, yB29F7. PAI2 is contained mapping panel described by Joan Overhauser are available within YACs yA27D8, yA24E4, and yA211F5. for PCR mapping. Contact: J. Overhauser (Thomas Jefferson University, Philadelphia PA). The monochromosomal hybrid cell lines, MS/26-21 (chromosome 18 orily) and MS/26-7 (18p only ) are currently available to collaboration in the form of genomic DNA
1 1 2 Cytogenet Cell Genet, Vol. 71,1995 Mouse Chromosome 18 Mouse Chromosome 1
10p11 Ifi/fl, I b ü L Kne, RnrIB
a ta xia 18q11 Twirtar, Tg9257 50 Evl3 18 1Bq12 CdhP 2q32-qler,2q33*qK>r, 2q34-q37 Aera. Aexd. Akn3, Ugtlal 1Bq12 IlC, Dsa1< Dsc3. Dsa3 10q12 Maplb. balding 2q24-q37 Säü 2q37 to 55 •pblngomymllnoala
HRkS t1Rk7 5q21-q22 15 ¿HC(Multlpla Intaatlnal na op la a Ia) laadan 5q23-q31 Mod pd2. tlltmd haad 5q31 Cdc2Sc 16q21 5q21«q23 Camk4. Tara toma 18 5q31-q33 M l 18q22 Pi*nh2 5q31»q32 20 x m 5q21-q22 Mcc p lu o ka d Dominant ft#m/m«//* Hsp 74 £oarvq13t 2 Ifihbb, ßfttt QbX2 65 25 b o u n cy Act1 1q3S C4ba Sq23*q31 FbnP Fig. 5. Comparative linkage map of 8q23»q31 Lrnnbl, Lux Sq31*q3S 30 Cstmr. Pdafrb. RdsU , Cdx1 human chromosome 18 genes localized in 5q31-q34 Pdaa 9q31-q33 U the mouse. Approximate distances from the C*mk2* Sq31*q32 Adrb2 Mouse Chromosome 17 centromere are indicated in cM. Mouse 35 Opcr7 abMkwr-wlth-ayndtotyllam chromosome 18 genes localized by in situ 10p11 ktc2r hybridization or somatic cell hybrid analysis 6p25*pi«f Lbal 1Bq21 Fach 30 are boxed. Genes mapped in human are 18q21 40 G rò 18p11 finn/ underlined, with human locations at left. Vav Mutant loci are shown in bold. This map has Pprs Dee. ohronlo multifocal ostaomyalltla 19p13 jCeZ been adapted by D. Kohrman and M. Meisler 18 35 from the 1994 Chromosome Committee IrS Report (Johnson and Davisson, 1994) , and 50 other references (Goldstein et al., 1994; 18 18p11 t I Lumi 40 thln für Masquilier et al., 1993; Ishikawa et al., :: 1994; Bond et al., 1995; Li et al., 1995). 1»q23 55 Mbo(»hivr*r) Microsatellite, viral integration sites, and 2p22 Sos1 other anonymous markers have been 1»q11 / nmiLl (nicatn 45 omitted. References are available from the Alpha subunlt) 18q23 P ool Mouse Genome Database (MGD) via the 1Bq23 Ntatc Internet (Table I). 1 Bp11 EmZ.(torawty Pipi)
(Nakashima et al., 1993). Contact: T. Imamura (National contact: P. O’Connell (University of Texas, San Antonio Institute of Genetics, Mishima, 411 Japan). TX). Radiation-reduced somatic cell hybrids for mapping purposes are presently being screened. Contact: R. Leach (University of Texas, San Antonio, TX). Databases
Libraries Jamie Cuticchia discussed the role of the Genome Data A 24 x genomic equivi lambda phage library in Base (GDB). A demonstration of how to obtain information Charon40 that was constructed by Pieter de Jong (RPMI, from GDB was provided. Buffalo NY) has been deposited at ATCC. A 7 x genomic Information is available from a number of databases equivalent chromosome IB-only cosmid library #/as also (WWW) constructed. This library has been arrayed onto 160 96-well be microtiter plates. A copy of this library is present in on the physical and genetic maps of chromosome 18. laboratories of Joan Overhauser, Gary Silverman, Uta A chromosome 18 home page will be general Francke, Pieter de Jong, Ad Geurts van Kessel, Silvia result of this workshop and will be made by Detera-Wadleigh, and Jim Russo. Requests for additional and other Utah representatives. This home nag copies of the library should be sent to J. Gingrich/J. Games information on the data presented at this workshop as well as (Lawrence Livermore National Laboratory, CA). ideograms showing the latest for A subset of the CEPH megasize YAC library that has WWW been mapped to chromosome 18 was identified and placed in or Steve Gerken (University of Utah, Salt Lake City UT). microtitre dishes. For availability of this subset of YACs
Cytogenet Cell Genet, Vol. 71,1995 113 Table I. Access to Chromosome 18 mapping information via World Wide Web sites
Database URL
Chromosome 18 Home Page http://www-genetics.med.utah.edu/ Eccles Institute of Genetics/University of Utah http://www-genetics.med.utah.edu/ Whitehead Institute/MIT Center for Genome Research http://www-genome.wi.mit.edu/ CHLC http ://w ww. chic, org/ Gen&hon/CEPH http://www.genethon.fr/genethon_en.html Jackson Labs/Mouse Genome Database http ://ww w.info rmati cs .j ax. o rg/ GDB http://gdbwww.gdb.org/
A list of useful WWW sites for obtaining chromosome 18 Preliminary plans are to organize the fourth international information is presented in Table I. workshop on human chromosome 18 mapping in Boston, MA USA. Contact: Gary Silverman (Harvard Medical School, Boston MA; telephone: 617-355-6416; fax: 617-355- Future chromosome 18 workshops 7677; e-mail: [email protected]).
It is anticipated that the physical maps of all human chromosomes will be completed in the near future. However, Acknowledgements chromosome 18 lags behind several others because of the absence of a chromosome 18 Human Genome Center. It is The organizers would like to thank Ed White and Helen expected that with the availability of large series of Green for their help in organizing the workshop and chromosome 18-specific YACs and efforts to generate Diederik de Bruyn in preparing the figures. The success of integrated maps, completion of the physical map will be this workshop was based on the willingness of all facilitated by another chromosome 18 workshop in a year, participants to contribute and discuss unpublished data.
114 Cytogenet Cell Genet, Vol. 71,1995 Participants
Dr. Leena Ala-Kokko Dr. Sevilla Detera-Wadleigh Dr. Takas hi Imamura Department of Biochemistry and Molecular Clinical Neurogenetics Branch Department of Human Genetics Biology NIMH/NIH National Institute of Genetics Thomas Jefferson University Bldg 10, Room 3N218 1,111 Yata, Mishima, Shizuoka-Ken 233 S. 10th Street 9000 Rockville Pike 411 Japan Philadelphia PA 19107 Bethesda, MD 20892 Telephone: (81) (559) 75-6795 Telephone: (215) 955-7413 Telephone: (301) 496-1641 Fax:(81)(559) 81-6800 Fax: (215) 955-5393 Fax: (301) 402-0859 E-mail: [email protected] E-mail: [email protected] E-mail:, sevilla® helix.nih.gov Dr. David Kohrman Dr. Joachim Amemann Department of Human Genetics > Dr. Ales sandra Feriini Institute of Human Genetics Divisione di Neurologie University of Michigan University Clinic Arcispedale S. Anna 4708 Medical Science II Theodor-Stem-Kai 7/I-Iaus 9 Corso Giovecca 203 Ferrara Ann Aibor MI 48109 D-60590 Frankfurt/M. 44100 Ferrara Telephone: (313) 763-5546 Germany Italy Fax: (313) 763-9691 Telephone: (49) (69) 6301-6014 Telephone: (39) 532) 295-264 E-mail: [email protected] Fax: (49) (69) 6301-6002 Fax: (39) (532) 295-588 E-mail: [email protected] Dr. Ken Krauter Dr. Nelson Freimer Albert Einstein College of Medicine Dr. Wade Berrettini Department of Psychiatry Department of Cell Biology Department of Psychiatry UCSF Chrom osome 12 GESTEC Thomas Jefferson University Box F-0984 1300 Morris Park Ave. 1020 Walnut Street 401 Parnassus Avenue Bronx NY 10461 312 College San Francisco CA 94143-0984 Telephone: (718) 430-3509 Philadelphia PA 19107 Telephone: (415) 476-7864 Fax: (718) 904-9361 Telephone: (215) 955-2872 Fax: (415) 476-7389 E-mail: [email protected] Fax: (215) 923-8219 E-mail: [email protected] E-mail: [email protected] Dr. Robin Leach Dr. Steve Gerken Department of Cellular and Structural Biology Leslie Boghosian-Sell Department of Human Genetics The University of Texas Health Sciences Department of Biochemistry and Molecular Eccles Institute of Human Genetics Center Biology Bldg 533 7703 Floyd Curi Drive Thomas Jefferson University University of Utah San Antonio TX 78284 233 South 10th Street Salt Lake City UT 84112 Telephone: (210) 567-6947 Philadelphia PA 19107 Telephone: (801) 581-4774 Fax: (210) 567-6781 Telephone: (215) 955-5188 Fax: (801) 585-3833 E-mail: [email protected] Fax: (215) 923-9162 E-mail: [email protected] E-mail: Selll @jeflin.tju.edu Dr. Bronwen Loder Dr. Ad Geurts van Kessel HUGO SCW Contract Dr. Kenneth Buetow Department of Human Genetics Cambridge University Fox Chase Cancer Center University Hospital Department of Pathology 7701 Burholme Ave PO Box 9101 Tennis Court Road Philadelphia PA 19111 6500 HB Nijmegen Cambridge CB21QP Telephone: (215) 728-3152 The Netherlands United Kingdom Fax: (215) 728-3574 Telephone: (31) (80) 614-107 Telephone: (44) (233) 33-93-98 E-mail: kh [email protected] Fax: (31) (80) 540-488 Fax: (44) (223) 33-93-98 E-mail: [email protected] E-mail: antro ■ q AI [email protected] Dr. Eugene D. Carstea NIH/NINDS/DMNB Traci Mansfield Bldg 10 Room 3D04 Wilhelmina Childrens Hospital Yale University 9000 Rockville Pike PO Box 18009 295 Congress Avenue, BCMM 345 Bethesda, MD 20892 3501 CA Utrecht New Haven CT 06511 Telephone: (301) 496-3285 The Netherlands Telephone: (203) 737-2284 Fax: (301) 496-9480 Telephone: (31) (30) 320-911 Fax: (203) 737-2630 E-mail: [email protected] Fax: (31) (30) 334-825 E-mail: TMANSFffi%BIOMED@VENUS. YCC.YALE.EDU Dr. A. Jamie Cuticchia Dr. Anne Hughes Genome Data Base Department of Medical Genetics Dr. Maximilian Muenke 2024 E. Monument St. Belfast City Hospital Division of Human Genetics/Molecular Biology Children's Hospital of Philadelphia Baltimore MD 21205 Belfast BT9 7AB 34th Street and Civic Center Blvd Telephone: (410) 955-9705 United Kingdom Philadelphia PA 19104 Fax: (410) 614-0434 Telephone: (44) (232) 32-92-41 ext. 2133 Telephone: (215) 590-3859 E-mail: [email protected] Fax: (44) (232) 23-69-11 Fax: (215) 590-3850 E-mail: [email protected]
...... m Cytogenet Cell Genet, Vol. 71,1995 115 Dr. Peter O'Connell Dr. Gary Silverman Department o f Pathology Harvard Medical School Dr. O. Colin Stine UTHSC San Antonio Joint Program in Neonatalogy 4-163 Meyer 7703 Floyd Curt Drive 300 Longwood Avenue, Enders-9 The Johns Hopkins Medical Institutions San Antonio TX 78284 Boston MA 02115 600 N. Wolfe Street Telephone: (512) 567-4126 Telephone: (617) 355-6416 Baltimore MD 21287 Fax: (512) 567-6729 Fax:(617)355-7677 Telephone: (410) 955-8341 E-mail: [email protected] E-mail: [email protected]. Fax:(410)614-1530 HARVARD.EDU E-mail: [email protected] Dr. Joan Overhauser Department of Biochemistry and Molecular Dr. Giorgio Sirugo Gordon Strathdee Biology Yale University, School of Medicine Department of Biochemistry and Molecular Thomas Jefferson University Department of Genetics Biology 233 South 10th Street Room 1-347 SHM Thomas Jefferson University Philadelphia PA 19107 333 Cedar St. 233 South 10th Street Telephone: (215) 955-5188 New Haven CT 06510 PhUadelphia PA 19107 Fax: (215) 923-9162 Telephone: (203) 785-2653 Telephone: (215) 955-5188 E-mail: [email protected] Fax: (203) 785-6568 Fax: (215) 923-9162 E-mail: [email protected]. E-mail: strathd 1 @jeflin.tju.edu YALE.EDU
116 Cytogenet Cell Genet, Vol. 71,1995 References
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W: The structural genes, MEP1A and MEP1B, Gerken S, Fish K, Uyar D, Polymeropoulos MH, Murray JC, Buetow KH, Weber JL, Ludwigsen S, for the a and b subunits of the Bradley P, White R, Overhauser J, Silverman Scherpbier HT, Manion F, Quillen J, Sheffield metalloendopeptidase meprin map to human GA: Integration of 28 STSs into the physical VC, Sunden S, Duyk GM, et al: A chromosomes 6p and 18q, respectively. map of human chromosome 18. Genomics comprehensive human linkage map with Genomics 25:300-303 (1995). 24:612-613 (1994). centimorgan density. Cooperative Human Buetow KH, Ludwigsen S, Scherpbier HT, Quillen Geurts van Kessel A, Straub RE, Silverman G A, Linkage Center (CHLC). Science 265:2049- J, Murray JC, Sheffield VC, Duyk GM, Weber Gerken S, Overhauser J: Report of the second 2054 (1994). JL, Weissenbach J, Gyapay G, et al: Human international workshop on human Nakashima II, Sakai M, Inaba R, Irnaniura T; genetic map. Genome maps V. Wall chart. chromosome 18 mapping. 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Vogelstein B: The DCC gene: structural M, Weissenbach J: The 1993-94 Genethon Rojas K, Overhauser J: Sublocalization of 21 analysis and mutations in colorectal human genetic linkage map. Nature Genet chromosome 18-specific microsatellite carcinomas. Genomics 19:525-531 (1994). 7:246-339 (1994). markers. Genomics 18:169-171 (1993). Chowdhary BP, Gustavsson I, Wikberg JE, Houwen RH, Baharloo S, Blankenship K, Rojas K, Silverman GA, Hudson JR Jr., Overhauser Chhajlani V: Localization of the human Raeymaekers P, Juyn J, Sandkuijl LA, Freimer J: Integration of the 1993-94 Genethon genetic melanocortin-5 receptor gene (MC5R) to NB: Genome screening by searching for shared linkage map for chromosome 18 with the chromosome band 18pl 1.2 by fluorescence in segments: mapping a gene for benign recurrent physical map using a somatic cell hybrid situ hybridization. Cytogenet Cell Genet intrahepatic cholestasis. Nature Genet 8:380- mapping panel. 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Cytogenet Cell Genet, Vol. 71,1995 117 Abstract titles of the third international workshop on human chromosome 18 mapping 1995
Author listed in bold type presented the abstract at the workshop. The complete abstract can be found in the GDB (GDB ID Number).
D. Adamson, H. Albertsen, L. Ballard, P. Bradley, M. Carlson, P. E.D. Carstea,1 K.G. Coleman,1 D. Zhang,1 M.T. Vanier,2 M.H. Cartwright, T. Eisner, D. Fuhrman, S. Gerken, L. Harris, P.R Holik, Polymeropoulos^ and P.G. Pentchev1 A. Kimball, J. Knell, E. Lawrence, J. Lu, A. Marks, N, Matsunami, National Institute of Neurological Disorders and Stroke, National R. Melis, B. Milner, M. Moore, L. Nelson, S. Odelberg, G. Peters, Institutes of Health, Bethesda MD, USA, ^INSERM U189, Lyon-S R. Plaetke, R. Riley, M. Robertson, R. Sargent, G. Staker, A. School of Medicine, Lyon, France, ^National Center for Human Tingey, K. Ward, X. Zhao and R. White Genome Research, Bethesda MD, USA Department of Human Genetics, University of Utah Health Sciences Localizing the human Nlemann-PIck disease type c gene to Center, Salt Lake City UT, USA 18q11 A PCR-based genetic linkage map of human chromosome 18 (G00-592-404) A.J. Cuticchla Division of Biomedicai Information Sciences, Johns Hopkins L. Ala-Kokko,1 J. Vuoristo,1 J. Overhauser,1 T. Ferraro,2 W. University, Baltimore MD, USA and thè Genome Data Base Berrettini,2 and D.J. Prockop1 The role of thè Genome Data Base at thè chromosome 18 Department of Biochemistry and Molecular Biology, and workshop (G00-592-393) ^Department of Psychiatry and Human Behaviour, Thomas Jefferson University, Philadelphia PA, USA The gene for the g-protein G-olf a tissue specific expression B. de Leeuw, M. Balemans, D. Olde Weghuis and A. Geurts van as mRNA with variable length 3’-non-translated regions (GOO- Kessel 592-397) Department of Human Genetics, University Hospital, Nijmegen, The Netherlands Identification of two alternative fusion genes, SYT-SSX1 and J. Arnemann,1 D. Simrak1, C.M.E. Cowley2 and R.S. Buxton2 SYT-SSX2, in t(X;18)(p11.2;q11.2)-positive synovial sarcomas lInstitut for Humangenetik, Universitätsklinik, Frankfurt/M. (GOO-592-386) Germany. Division of Eukaryotic Molecular Genetics, National Institute for Medical Research, The Ridgeway, Mill Hill, London, United Kingdom S.D. Detera-Wadleigh,1 T. Yoshikawa,1 W.H. Berrettini,2 L.R. A YAC contig for the desmosomal cadherin locus at 18q12.1 Goldin,1 and E.S. Gershon1 (GOO-592-403) * National Institute of Mental Health, National Institutes of Health, •^Thomas Jefferson University, USA Candidate genes for bipolar illness on chromosome 18 (G00- W.H. Berrettini,1 T.N. Ferraro1, J. Vuoristo,2 L. Ala-Kokko,2 R. 592-400) Goldin,3 S.D.-Detera-Wadleigh,3 J.l. Nürnberger, Jr. 3 and E.S. Gershon3 lDepartment of Psychiatry, 2^Biochemistry and Molecular Biology, N. Freimer,1 S. Baharloo,1 V. Carlton,1 L. Bull,1 N. Huynh,1 B. Thomas Jefferson University, Philadelphia PA, ^National Institute of Scharschmidt,1 N. Lomri,1 A. Knisely,2 R. Houwen3 Mental Health, National Institute of Health, Bethesda MD, USA 1 University of California, San Francisco, San Francisco CA; A linkage study of bipolar illness (GOO-592-385) 2Childrens Hospital and University of Pittsburgh, Pittsburgh PA, USA; 3Wilhelmina Childrens Hospital, Utrecht, T he Netherlands Fine mapping of a locus for familial cholestasis in 18q21 (GOO L. Boghoslan-Sell and J. Overhauser 592-405) Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia PA, USA Characterization of a (7; 18) chromosome translocation A.J. Griffith, D.C. Kohrman, D.L. Burgess, and M.H. Meisler breakpoint that segregates in a family with features of Department of Human Genetics, University of Michigan, Ann A it) or Tourette's syndrome (G0Q-592-406) MI, USA Comparative mapping of a disease gene linkage marker on human and mouse chromosome 18 (G00-592-396) K.H. Buetow,1 V. Sheffield,2 G. Duyk,3 J. Weber,4 and J. Murray2 ^Fox Chase Cancer Center, Philadelphia PA; ^University of Iowa, Iowa City IA; ^Harvard University, Cambridge MA; ^Marshfield R.H.J. Houwen,1 J.K. Ploos van Amster,2 R. Berger,1 and N. Medical Research Foundation, Marshfield WI, USA Freimer3 1 2 A genetic map of human chromosome 18 (G00-592-4Q9) Wilhelmina Childrens Hospital, ^Clinical Genetics Center Utrecht, The Netherlands, Neurogenetics Laboratory, University of California, San Francisco CA, USA The BRIC gene is localized between the markers D18s69 and D18s60 (G00-592-390)
118 Cytogenet Cell Genet, Vol. 71,1995 A.E. Hughe«,1 A.M. Shearman,1 K.J. May,1 D.J. Housman,2 and P. O’Connell,1'2 2. Brkanac,1 and R.J. Leach1 N.C. Nevin1 1 Department of Cellular and Structural Biology, department of department of Medical Genetics, The Queen’s University of Belfast, Pathology, University of Texas Health Science Center, San Antonio UK; ^Center for Cancer Research, MIT, Cambridge MA, USA TX, USA Physical mapping of the familial expansile osteolysis region in STS content-based YAC map of distal long arm of human chromosome 18q21.3 (G00-592-401) chromosome 18 (GOO-592-398)
A. Kimura,1 H. Harada, and J. Overhauser2 J. Overhauser, K. Rojas, G. Strathdae, and G. Silverman department of Tissue Physiology, Division of Adult Diseases, Department of Biochemistry and Molecular Biology, Thomas Medical Research Institute, Tokyo Medical and Dental University, Jefferson University, Philadelphia PA, USA Tokyo, Japan and department of Biochemistry and Molecular Somatic cell hybrid mapping panel for chromosome 18 (GOO Biology, Thomas Jefferson University, Philadelphia PA, USA. 592-407) Isolation, characterization and mapping of a human RIC gene family on the short arm of chromosome 18 (G00-592-411) M.C. Petrosso,1 P. Gobbi,2 P. Conigli,3 F. Salvi,2 P. Vezzoni,1 and A. Ferllni3'4 K.S. Krauter,11 K. Montgomery ,1 S.-J. Yoon,1 J. LeBlanc- 1 CNR, Milano, -^Servizio di Neurologia, Ospedale Bellaria, Straceski,1 B. Renault, ‘ L. Cupelli,1 I. Marondel,1 V. Herdman,1 A. d ivision e di Neurologia, Arcispedale S. Anna, Ferrara, Italy, Banks,2 J. Lieman,2 J. Menninger,2,P. Bray-Ward,2 P. Nadkarni,2 UK J. Weissenbach,3 1. Chumakov,4 D. Cohen,4 P. Miller,2 D. Ward,2 Transthyretin (TTR) gene: identification of nevi and R. Kuckerlapati1 genotype-phenotype correlation (G00-592-402) 1 Albert Einstein College of Medicine, Bronx NY; Yale University School of Medicine, New Haven CT, LISA; denethon, Evry Cedex, France; 4CEPH, Paris, France. C. Schick, S.S. Schneider, S.D. Treterand G.A. Silverman An Integrated physical map of human chromosome 12 (GOO- Department of Pediatrics, Harvard Medical School, Boston MA, USA 592-394) A family of human serine proteinase Inhibitors map to 18q21.3 (GOO -592-388)
R.J. Leach and J.D. Cody The University of Texas Health Science Center, San Antonio TX, G. Sirugo,1 T. Haaf,1 J. Parnas,2 S. Matthysse,3 D. Levy,3 P. USA Holzman3 and K.K. Kidd1 Radiation-reduced hybrid panel for human chromosome 18 * Yale University, Department of Genetics, School of Medicine, New (G00-592-399) Haven CT, USA; Department of Preventive Medicine, Kommunehospitalet, Copenhagen Denmark; Department of Psychiatry, Hvidovre Hospital, Denmark and 3McLean Hospital, T. Mansfield,1 F. Leach,2 N. Lisitsyn,3 M. Wîgler,3 B. Vogelstein,3 Belmont MA, and Harvard Medical School, Boston MA, USA. and E. Fearon1 Repeat expansion detection (RED) of a (CTG)n dynamic l Yale University, New Haven CT, 2Johns Hopkins University, mutation In a Danish schizophrenia kindred, mapped to Baltimore MD, *Cold Spring Harbor Laboratory, Cold Spring Harbor chromosome 18q21 by in situ hybridization. (G00-592-392) NY, USA Loss of heterozygosity on chromosome 18q in a colorectal cancer (G00-592-391 ) O.C. Stine,1 J. Xu,1 R. Koskela,2 F.J. McMahon,1 C.D. Clark,3 C. Friddle 3 M. Geshwant,3 T, Breschel,1 S.G. Simpson,1 D. Botstein,3 T.G. Marr,2 M.G. Mclnnis,1 D.A. Meyers,4 and J.R. M. Muenke1 and J. Overhauser2 DePaulo1 The Children’s Hospital of Philadelphia and Department of department of Psychiatry, John Hopkins University School of Pediatrics, Division of Human Genetics and Molecular Biology, Medicine, Baltimore MD; department of Computational Biology, University of Pennsylvania School of Medicine, Philadelphia PA; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY; Department of Biochemistry and Molecular Biology, Thomas department of Genetics, Stanford University, Stanford, CA; Jefferson University, Philadelphia PA, USA department of Medicine, John Hopkins University School of Definition of the holoprosencephaly minimal critical region (MCR) on chromosome 18p (G00-592-410) Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-orlgln effect (G00-592-389)
H. Nakashima, M. Sakai, R. Inaba, and T. Imamura Department of Human Genetics, National Institute of Genetics, G. Strathdee,1 E.H. Zackai,2 R. Shapiro,3 J. Kamholz,4 J. Mishima, Japan Overhauser1 Construction of human chromosome 18 cosmid library and ‘Department of Biochemistry and Molecular Biology, Thomas mapping of 60 new probes using fluorescence in situ Jefferson University, Philadelphia PA; department of Genetics, hybridization (G00-592-387) ^Psychiatry, and ‘^Neurology, Medicine, Philadelphia PA, USA Molecular cytogenetic analysis of 18q* syndrome (G0Q-592 408)
Cytogenet Cell Genet, Vol. 71,1995 •1 119