DOCSLIB.ORG

Gene Mapping and Medical Genetics Genetic Markers on Chromosome 7

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Gene Mapping and Medical Genetics Genetic Markers on Chromosome 7 J Med Genet: first published as 10.1136/jmg.25.5.294 on 1 May 1988. Downloaded from Gene mapping and medical genetics Journal of Medical Genetics 1988, 25, 294-306 Genetic markers on chromosome 7 LAP-CHEE TSUI From the Department of Genetics, The Hospitalfor Sick Children, 555 University Avenue, Toronto, Ontario MSG 1X8, and the Departments of Medical Genetics and Medical Biophysics, University of Toronto, Toronto, Ontario, Canada. SUMMARY Chromosome 7 is frequently associated with chromosome aberrations, rearrange- ments, and deletions. It also contains many important genes, gene families, and disease loci. This brief review attempts to summarise these and other interesting aspects of chromosome 7. With the rapid accumulation of cloned genes and polymorphic DNA fragments, this chromosome has become an excellent substrate for molecular genetic studies. Chromosome 7 has been a subject of interest in gene structure analysed in detail; some have only medical genetics because of its frequent association been assigned by enzyme activities, such as bili- with chromosome aberrations, rearrangements, and verdin reductase 2 and paraoxanase.51-54 copyright. deletions, and because of the localisation of several There are several gene families identified on important genes, gene families, and disease loci on chromosome 7. The T cell receptor I6 and y chain this chromosome. It accounts for approximately 5% genes have received most of the attention in the past of the human genomel and it is estimated to be 136 few years. Both genes have complex gene structures centimorgans (cM) in length2 and to contain 150 and belong to the large immunoglobulin multigene million basepairs of DNA. The short (p) and long family.94 9 Expression of these genes requires (q) arm size ratio is approximately 1 to 1-5 (figure), proper chromosome rearrangement joining diffe- http://jmg.bmj.com/ but it varies significantly between prometaphase and rent DNA segments together during T cell midmetaphase.3 differentiation." The y chain gene has been local- Approximately 40 genetic loci were reported to be ised to the short arm, region p15.201 21 The f chain on chromosome 7 at the Eighth Human Gene gene has been mapped to 7q3 but different sub- Mapping Workshop (Helsinki, September.1985).4 5 region localisation data have been obtained by diffe- There has been a dramatic increase of markers on rent investigators; it is still unclear whether the gene this chromosome since then. The total number of maps to q3268 or q35.67 69 gene loci and DNA markers characterised now well The multidrug resistant phenotype of tumour cells on September 27, 2021 by guest. Protected exceeds 4006 (figure, table, K-H Grzeschik, 1987, is correlated with increased expression and amplifi- personal communication, L-C Tsui et al, unpub- cation of the PGY-1 (mdr-J) locus which encodes a lished data). In addition, a chromosome 7 specific membrane glycoprotein called P glycoprotein.9798 genomic library has been constructed by the Los This protein is thought to function as an energy Alamos and Lawrence Livermore National Labor- dependent export pump to reduce intracellular atories using flow sorted chromosome 7 from a levels of anticancer drugs.99 Molecular cloning and hamster-human hybrid cell line.7 mapping studies showed that the PGY-1 locus probably contains a number of related genes clustei- Genes and gene families ed within 7q21-*q22.5 4 The 1-actin'3 and the proa2(I) collagen-39-43 genes More than 35 genes of assigned functions have been also belong to multigene families but their related localised to chromosome 7. They are listed in the members are dispersed elsewhere in the genome. table. Some of the genes, such as f-actin'3 and proa2(I) collagen,39-43 have been cloned and the Disease loci to Received for publication 10 August 1987. A number of disease loci have been mapped Accepted for publication 11 August 1987. chromosome 7. The metabolic defects argininosucci- 294 J Med Genet: first published as 10.1136/jmg.25.5.294 on 1 May 1988. Downloaded from Genetic markers on chromosome 7 295 22 IPSP (mS) 21 15.3 15.2 15.1 14 13 D7S12 ASL (m5) 1213i 11:9 Q 11.23 M F 21.1 U COL1A2- 21.2 D7S1 s - 21.3 A2 EPO - 7.7 24.0 ICOL1 PON 22 (m16) IGUSB (in5) D7S13 IPGY1 2.6 7.8 31.1 D7S13 D7S15 D7S1 6- 31.2 D7S16 EPO BCP 0.4 1.3 CPA (m6) MET - _ 1.4 4.2 31.3 MET (m6) PON ERV3 CF ACTBP5 _ 0.9 2.7 CF D7S8 32 D7S8 TRYI (m6) I NM 21.5 65.8 33 TCRB (m") 34 TCRB-_ copyright. 35 BND3L I 36 7 FIGURE Genetic markers on chromosome 7. Regional localisations are indicated by vertical bars. The homologous mouse chromosomes are shown in brackets. The male andfemale genetic linkage maps for selected loci are shown on the right with numbers in centimorgans. http://jmg.bmj.com/ nicaciduria, mucopolysaccharidosis VII, and trypsi- which is a group of autosomal dominant connective nogen deficiency are probably the result of muta- tissue disorders with skeletal, cardiac, and ocular tions within the genes encoding the enzymes that are defects.'113 A 20 amino acid insertion was found in involved in the biochemical pathway, namely argini- 50% of the proa2(I) chains in one patient and was nosuccinic lyase, 3-glucuronidase, and trypsinogen, thought to be the cause of the disease.'14 DNA on September 27, 2021 by guest. Protected respectively.1l8 Tritan colour blindness probably sequence analysis of the proc2(1) collagen gene results from mutation of the blue-opsin gene.57 revealed a 38 bp insertion in this patient.'11 How- Osteogenesis imperfecta describes a group of ever, subsequent studies showed that this 38 bp fragile bone disorders which are clinically insertion is a common DNA fragment length poly- heterogeneous. 1" The syndrome can be divided into morphism among random normal subjects"'" and four phenotypic groups depending on the presence there is no linkage relationship between the disease or absence of short stature, joint laxity, easy locus and the proa2(I) collagen gene in family bruising, blue sclerae, presenile hearing loss, and studies."'7 (18 dentinogenesis imperfecta. All of these symptoms Ehlers-Danlos syndrome is another hetero- are presumed to be the result of mutations in one of geneous group of disorders with collagen defects. "(M the six collagen genes. The genetics of 01 have Their clinical manifestations include laxity of joints, recently been reviewed in this Journal. 102 The soft and extensible skin which may also be fragile, proa2(I) collagen gene which is involved in all four and excessive bruising. At least one form of this groups is located on the long arm of chromosome 7 syndrome has been proposed to result from ab- (7q21-3--*q22- 1). normal cleavage of the N-peptide of the proa2(I) The collagen genes have also been prime candi- chain."'9 dates for the gene mutation in Marfan syndrome, Cystic fibrosis (CF) is the most common severe J Med Genet: first published as 10.1136/jmg.25.5.294 on 1 May 1988. Downloaded from 296 Lap-Chee Tsui TABLE Genes and DNA probes. Regional Gene Name or probe Mode* RFLP References assignment sYmbol Genes pter- pl5 COLL5 Collagen-like 5 A 8 pter- pl4 GCTG y-glutamylcyclotransferase S 9 pter--.p22 PSP Phosphoserine phosphatase S 11) pter- yq I HIL Histone HI-like gcnes A 11 pter-.q22 NPY Neuropeptide Y S,RE 12 pter-).q22 ACTB li-actin S,RE 13 pter- q22 PDGFA Platelet derived growth RE,S 14 factor. A chain p22- 1---q2l DIA2 Diaphorase S 15, 16 p21l- pl4 HOX-1 Mouse Hox- I homologue RE,S 17 p2l-.*q22 ASL Arginosuccinate lyase S,RE 18. 19 p'5 TCRG T cell reccptor. y chain S.RE + 211, 21 pl4- cen BLVR Biliverdin reductase S.RE 22, 23 pl pI I EGFR Epidermal growth factor S 24-28 receptor (=ERBB) pl2 -pl4 ERBB v-erbB oncogene homologue S.RE 29-32 (avian crythroblastic leukaemia virus) p1.--+q22 MDH2 NAD malate dehydrogenase 33 p i--+ (mitochondrial) p1l-~l I1 ASNS Asparagine synthetasc S.RE+ 34, 35 cen-q 1 12 MYHS Myosin heavy polypeptidc. A 36 aidult skeletal muscle q2l--q22 ERV3 v-ert'3 homologue S,RE 37, Tsui et al, unpublished data q21 .3-+q22-I COLIA? Collagen. typc I o2 S,RE + 38-43 PGYI P glycoprotcin S.RE,A 44-46 GUSB 3-glucuronidase S,RE 33, 45, 47, Tsui et al, unpublished data copyright. q22 G protein, o(H subunit S,RE FS Collins, J Seidman, 1987, personal communication q22-tcq22 EPO Erythropoietin S,RE + 48-511 q22 PON Paratoxonasc F 51-54 MET met proto-oncogene RE.A.S 45, 55, 56 BCP Blue cone pigment RE.S 57 q22--*qtcr CPA Cairboxypeptidase A RE 58 q22 rqtcr ACTBPS P-actin pseudogene 5 S,RE 13 + q22 qtcr TRY I Trypsin S.RE 58, 59 http://jmg.bmj.com/ q3I CF Cystic fibrosis F 53, 60-63 q32 or q35 TCRB T cell receptor. B chakin RE.S.A + 64-69 q3S-.q36 BND3L Baind 3-like. fibroblaist RE.S + 711 ASSPI Arginosuccinatte svnthetaise RE.S + 71, 72 pseudogenc I PAI-I Plhtsminogcn itctiv;dtor S,RE 73 inhibitor Cytochrome P450( protein S,RE + 74 glucocorticoid inducibie INFB2 P2 interferon SRE + 75 UP Uridine phosphorylavse S 76 on September 27, 2021 by guest. Protected HADH Hydroyvtcyl-CoA dchydrogcn;ise S 77 P04DB Procollagen-proline. 2-oxogluta- S 78 rate: 4-dioxygenase. 3 chatin DNA segot(ntcs pter-pl4 D7SIO p.1511 RE.S + 79 pter-.q22 D7S/ I Phtgc f( RE.S+ 211 ptcr-q22 D7.S12 pB78 RE.S 79.810 pI2-qtcr DNF9 pA-8 81 pll--q II !37Zl Chromosome 7 specific RE.S+ 82.
Load more

Recommended publications
  • Combinatorial Genomic Data Refute the Human Chromosome 2 Evolutionary Fusion and Build a Model of Functional Design for Interstitial Telomeric Repeats
    The Proceedings of the International Conference on Creationism Volume 8 Print Reference: Pages 222-228 Article 32 2018 Combinatorial Genomic Data Refute the Human Chromosome 2 Evolutionary Fusion and Build a Model of Functional Design for Interstitial Telomeric Repeats Jeffrey P. Tomkins Institute for Creation Research Follow this and additional works at: https://digitalcommons.cedarville.edu/icc_proceedings Part of the Biology Commons, and the Genomics Commons DigitalCommons@Cedarville provides a publication platform for fully open access journals, which means that all articles are available on the Internet to all users immediately upon publication. However, the opinions and sentiments expressed by the authors of articles published in our journals do not necessarily indicate the endorsement or reflect the views of DigitalCommons@Cedarville, the Centennial Library, or Cedarville University and its employees. The authors are solely responsible for the content of their work. Please address questions to [email protected]. Browse the contents of this volume of The Proceedings of the International Conference on Creationism. Recommended Citation Tomkins, J.P. 2018. Combinatorial genomic data refute the human chromosome 2 evolutionary fusion and build a model of functional design for interstitial telomeric repeats. In Proceedings of the Eighth International Conference on Creationism, ed. J.H. Whitmore, pp. 222–228. Pittsburgh, Pennsylvania: Creation Science Fellowship. Tomkins, J.P. 2018. Combinatorial genomic data refute the human chromosome 2 evolutionary fusion and build a model of functional design for interstitial telomeric repeats. In Proceedings of the Eighth International Conference on Creationism, ed. J.H. Whitmore, pp. 222–228. Pittsburgh, Pennsylvania: Creation Science Fellowship. COMBINATORIAL GENOMIC DATA REFUTE THE HUMAN CHROMOSOME 2 EVOLUTIONARY FUSION AND BUILD A MODEL OF FUNCTIONAL DESIGN FOR INTERSTITIAL TELOMERIC REPEATS Jeffrey P.
    [Show full text]
  • Epigenetic Control of Mammalian Centromere Protein Binding: Does DNA Methylation Have a Role?
    Journal of Cell Science 109, 2199-2206 (1996) 2199 Printed in Great Britain © The Company of Biologists Limited 1996 JCS3386 Epigenetic control of mammalian centromere protein binding: does DNA methylation have a role? Arthur R. Mitchell*, Peter Jeppesen, Linda Nicol†, Harris Morrison and David Kipling MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK *Author for correspondence (internet [email protected]) †Present address: MRC Reproductive Biology Unit, Edinburgh, UK SUMMARY Chromosome 1 of the inbred mouse strain DBA/2 has a block of minor satellite DNA sequences on chromosome 1. polymorphism associated with the minor satellite DNA at The binding of the CENP-E protein does not appear to be its centromere. The more terminal block of satellite DNA affected by demethylation of the minor satellite sequences. sequences on this chromosome acts as the centromere as We present a model to explain these observations. This shown by the binding of CREST ACA serum, anti-CENP- model may also indicate the mechanism by which the B and anti-CENP-E polyclonal sera. Demethylation of the CENP-B protein recognises specific sites within the arrays minor satellite DNA sequences accomplished by growing of minor satellite DNA on mouse chromosomes. cells in the presence of the drug 5-aza-2′-deoxycytidine results in a redistribution of the CENP-B protein. This protein now binds to an enlarged area on the more terminal Key words: Centromere satellite DNA, Demethylation, Centromere block and in addition it now binds to the more internal antibody INTRODUCTION A common feature of many mammalian pericentromeric domains is that they contain families of repetitive DNA The centromere of mammalian chromosomes is recognised at sequences (Singer, 1982).
    [Show full text]
  • Aneuploidy and Aneusomy of Chromosome 7 Detected by Fluorescence in Situ Hybridization Are Markers of Poor Prognosis in Prostate Cancer'
    [CANCERRESEARCH54,3998-4002,August1, 19941 Advances in Brief Aneuploidy and Aneusomy of Chromosome 7 Detected by Fluorescence in Situ Hybridization Are Markers of Poor Prognosis in Prostate Cancer' Antonio Alcaraz, Satoru Takahashi, James A. Brown, John F. Herath, Erik J- Bergstralh, Jeffrey J. Larson-Keller, Michael M Lieber, and Robert B. Jenkins2 Depart,nent of Urology [A. A., S. T., J. A. B., M. M. U, Laboratory Medicine and Pathology (J. F. H., R. B. fl, and Section of Biostatistics (E. J. B., J. J. L-JCJ, Mayo Clinic and Foundation@ Rochester, Minnesota 55905 Abstract studies on prostate carcinoma samples. Interphase cytogenetic analy sis using FISH to enumerate chromosomes has the potential to over Fluorescence in situ hybridization is a new methodologj@which can be come many of the difficulties associated with traditional cytogenetic used to detect cytogenetic anomalies within interphase tumor cells. We studies. Previous studies from this institution have demonstrated that used this technique to identify nonrandom numeric chromosomal alter ations in tumor specimens from the poorest prognosis patients with path FISH analysis with chromosome enumeration probes is more sensitive ological stages T2N@M,Jand T3NOMOprostate carcinomas. Among 1368 than FCM for detecting aneuploid prostate cancers (4, 5, 7). patients treated by radical prostatectomy, 25 study patients were ascer We designed a case-control study to test the hypothesis that spe tamed who died most quickly from progressive prostate carcinoma within cific, nonrandom cytogenetic changes are present in tumors removed 3 years of diagnosis and surgery. Tumors from 25 control patients who from patients with prostate carcinomas with poorest prognoses .
    [Show full text]
  • 1311.Full.Pdf
    Copyright © 2005 by the Genetics Society of America DOI: 10.1534/genetics.104.033167 Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis in Candida albicans Wei Wu, Claude Pujol, Shawn R. Lockhart and David R. Soll1 Department of Biological Sciences, University of Iowa, Iowa City, Iowa 52242 Manuscript received July 7, 2004 Accepted for publication December 7, 2004 ABSTRACT Candida albicans, which is diploid, possesses a single mating-type (MTL) locus on chromosome 5, which is normally heterozygous (a/␣). To mate, C. albicans must undergo MTL homozygosis to a/a or ␣/␣. Three possible mechanisms may be used in this process, mitotic recombination, gene conversion, or loss of one chromosome 5 homolog, followed by duplication of the retained homolog. To distinguish among these mechanisms, 16 spontaneous a/a and ␣/␣ derivatives were cloned from four natural a/␣ strains, P37037, P37039, P75063, and P34048, grown on nutrient agar. Eighteen polymorphic (heterozygous) markers were identified on chromosome 5, 6 to the left and 12 to the right of the MTL locus. These markers were then analyzed in MTL-homozygous derivatives of the four natural a/␣ strains to distinguish among the three mechanisms of homozygosis. An analysis of polymorphisms on chromosomes 1, 2, and R excluded meiosis as a mechanism of MTL homozygosis. The results demonstrate that while mitotic recombination was the mechanism for homozygosis in one offspring, loss of one chromosome 5 homolog followed by duplication of the retained homolog was the mechanism in the remaining 15 offspring, indicating that the latter mechanism is the most common in the spontaneous generation of MTL homozy- gotes in natural strains of C.
    [Show full text]
  • Microcephaly Genes and Risk of Late-Onset Alzheimer Disease
    ORIGINAL ARTICLE Microcephaly Genes and Risk of Late-onset Alzheimer Disease Deniz Erten-Lyons, MD,*w Beth Wilmot, PhD,zy Pavana Anur, BS,z Shannon McWeeney, PhD,zyJ Shawn K. Westaway, PhD,w Lisa Silbert, MD,w Patricia Kramer, PhD,w and Jeffrey Kaye, MD*w Alzheimer’s Disease Neuroimaging Initiative ratio=3.41; confidence interval, 1.77-6.57). However, this associa- Abstract: Brain development in the early stages of life has been tion was not replicated using another case-control sample research suggested to be one of the factors that may influence an individual’s participants from the Alzheimer Disease Neuroimaging Initiative. risk of Alzheimer disease (AD) later in life. Four microcephaly We conclude that the common variations we measured in the 4 genes, which regulate brain development in utero and have been microcephaly genes do not affect the risk of AD or that their effect suggested to play a role in the evolution of the human brain, were size is small. selected as candidate genes that may modulate the risk of AD. We examined the association between single nucleotide polymorphisms Key Words: Alzheimer disease, microcephaly genes, cognitive tagging common sequence variations in these genes and risk of AD reserve in two case-control samples. We found that the G allele of (Alzheimer Dis Assoc Disord 2011;25:276–282) rs2442607 in microcephalin 1 was associated with an increased risk of AD (under an additive genetic model, P=0.01; odds Received for publication June 2, 2010; accepted December 2, 2010. enetics has been suggested to play a role in variations From the *Portland Veterans Affairs Medical Center; wDepartment of Gin cognitive function in late life.1 One way in which Neurology; zOregon Clinical and Translational Research Center; genes may play a role in cognitive function in late life is yDivision of Bioinformatics and Computational Biology, Depart- through providing an “initial endowment” that is more ment of Medical Informatics and Clinical Epidemiology; and JDivision of Biostatistics, Department of Public Health and resistant to age-related changes.
    [Show full text]
  • 7Q Deletions Proximal Interstitial FTNP
    Support and Information Rare Chromosome Disorder Support Group, G1, The Stables, Station Road West, Oxted, Surrey RH8 9EE, United Kingdom Tel/Fax: +44(0)1883 723356 [email protected] III www.rarechromo.org Join Unique for family links, information and support. 7q deletions Unique is a charity without government funding, existing entirely on donations and grants. If you can, please make a donation via our website at www.rarechromo.org Please help us to help you! proximal interstitial Facebook group for 7q deletions and duplications: www.facebook.com/groups/493223084038489 Unique lists external message boards and websites in order to be helpful to families looking for information and support. This does not imply that we endorse their content or have any responsibility for it. This information guide is not a substitute for personal medical advice. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on genetic changes is a very fast-moving field and while the information in this guide is believed to be the best available at the time of publication, some facts may later change. Unique does its best to keep abreast of changing information and to review its published guides as needed. The guide was compiled by Unique and reviewed by Dr Steve Scherer, Centre for Applied Genomics, Hospital for Sick Children, Toronto, Canada and by Professor Maj Hultén, BSc, PhD, MD, FRCPath, Professor of Medical Genetics, University of Warwick, 2009. Copyright © Unique 2009 Rare Chromosome Disorder Support Group Charity Number 1110661 Registered in England and Wales Company Number 5460413 rrraraaarrrreeeecccchhhhrrrroooommmmoooo....oooorrrrgggg 24 A 7q deletion the development of an embryo.
    [Show full text]
  • Chromosome 2 Introduction the Genetic Length of Chromosome 2
    Chromosome 2 ©Chromosome Disorder Outreach Inc. (CDO) Technical genetic content provided by Dr. Iosif Lurie, M.D. Ph.D Medical Geneticist and CDO Medical Consultant/Advisor. Ideogram courtesy of the University of Washington Department of Pathology: ©1994 David Adler.hum_02.gif Introduction The genetic length of chromosome 2 spans ~237 Mb. It is ~8% of the whole human genetic material. The length of the short arm is ~89 Mb; the length of the long arm is 148 Mb. Chromosome 2 contains ~1500 genes. At least 200 of these genes are related to different kinds of genetic pathologies. Many of these genes are associated with structural defects of the organs, and others, to functional defects. The numerous structural abnormalities of chromosome 2 had already been reported before methods of molecular genetics gained wide usage. Currently there are ~1,500 reports on patients with varying structural abnormalities of this chromosome, including ~1,000 reports on patients with deletions. Deletions have been reported in at least 10–15 patients for each segment of chromosome 2. There are ten known syndromes caused by deletions of chromosome 2, including three syndromes related to deletions of the short arm (p). Some of these syndromes have been known for many years; others (del 2p15p16.1, del 2q23q24, and del 2q32) have been delineated only in the last couple of years. Deletions of Chromosome 2 Different types of chromosome 2 deletions have been described in numerous publications and may be subdivided into 3 groups: • Deletions that are “harmless” variants (usually familial) • Unique deletions that have not been categorized as a syndrome yet • Deletions that are considered a syndrome Deletions of 2p Deletion of 2p15p16.1 This syndrome, first described in 2007, is rare; only ten patienys have been described to date.
    [Show full text]
  • Detailed Genetic and Physical Map of the 3P Chromosome Region Surrounding the Familial Renal Cell Carcinoma Chromosome Translocation, T(3;8)(Pl4.2;Q24.1)1
    [CANCER RESEARCH 53. 3118-3124. July I. 1993] Detailed Genetic and Physical Map of the 3p Chromosome Region Surrounding the Familial Renal Cell Carcinoma Chromosome Translocation, t(3;8)(pl4.2;q24.1)1 Sal LaForgia,2 Jerzy Lasota, Parida Latif, Leslie Boghosian-Sell, Kumar Kastury, Masataka Olita, Teresa Druck, Lakshmi Atchison, Linda A. Cannizzaro, Gilad Barnea, Joseph Schlessinger, William Modi, Igor Kuzmin, Kaiman Tory, Berton Zbar, Carlo M. Croce, Michael Lerman, and Kay Huebner3 Jefferson Cancer Institute. Thomas Jefferson Medical College. Philadelphia, Pennsylvania 19107 (S. L. J. L. L B-S.. K. K.. M. O.. T. D.. L A. C.. C. M. C.. K. H.I: Laboratory of Immunobiology. National Cancer Institute. Frederick Cancer Research and Development Center. Frederick. Maryland 21701 (F. L, l. K.. K. T.. B. Z.. M. L): Biological Carcinogenesis and Development Program. Program Resources Inc./Dyn Corp.. Frederick Cancer Research and Development Center. Frederick. Maryland 21701 1W. M.Õ: Chestnut Hill College. Philadelphia. Pennsylvania 19118 (L A.): and Department oj Pharmacology. New York University. New York. New York 10012 (G. B., J. S.I ABSTRACT location of the critical 3p region(s) harboring the target gene(s) had been hampered by the paucity of well-localized, widely available Extensive studies of loss of heterozygosity of 3p markers in renal cell molecular probes. Recently, efforts to isolate and localize large num carcinomas (RCCs) have established that there are at least three regions bers of 3p molecular probes have been undertaken (25-28). As the critical in kidney tumorigenesis, one most likely coincident with the von Hippel-Lindau gene at 3p25.3, one in 3p21 which may also be critical in probe density on 3p increased, in parallel with recent LOH studies, it small cell lung carcinomas, and one in 3pl3-pl4.2, a region which includes became clear that multiple independent loci on 3p were involved the 3p chromosome translocation break of familial RCC with the t(3;8)- (summarized in Refs.
    [Show full text]
  • Numerical Chromosome 1, 7, 9, and 11 Aberrations in Bladder Cancer Detected by in Situ Hybridization1
    [CANCER RESEARCH 51, 644-651, January 15. 1991] Numerical Chromosome 1, 7, 9, and 11 Aberrations in Bladder Cancer Detected by in Situ Hybridization1 Anton H. N. Hopman,2 Olof Moesker, A. Wim G. B. Smeets, Ruud P. E. Pauwels, G. Peter Vooijs, and Frans C. S. Ramaekers Department of Pathology, L'niversity //ospitai Nijmegen, fieert Grooteplein Zulu 24, 6525 (iA, .\ijmegen ¡A.H. N. H., O. .\t., C. P. ('./.' Stickling Ziekenkuisapotkeek en Klinisch Laboratorium l'enray [A. H'. G. B. S.J; Department of Urology, Hospital I enlo-1 'enray [R. P. K. P.], and Department of Molecular Cell Biology, L'nirersity ofLimhurg, Maastricht ¡A.H. N. H., F. C. S. R.], The Netherlands. ABSTRACT studies we demonstrated that this approach enables a routine screening of large tumor cell populations in, for example, Forty transitional cell carcinomas of the human urinary bladder (TCCs) TCCs4 (5, 10). Furthermore, ISH enables the detection of minor were examined for numerical aberrations of chromosomes 1, 7, 9, and 11 by in situ hybridization using chromosome-specific probes. Our inter- cell populations or imbalance in chromosome copy number phase cytogenetic study of 24 low-grade, noninvasive TCCs, which were within one tumor. near-diploid by flow cytometry, showed a numerical aberration for at By means of conventional karyotyping nonrandom chromo least I of these chromosomes in 14 of these cases. Most strikingly, a some aberrations involving chromosomes 1, 7, 9, and 11 have monosomy for chromosome 9 was found in 9 of 24 low-grade TCCs. A been detected in bladder cancer.
    [Show full text]
  • The Human Gene Encoding Phosphatidylinositol-3 Kinase Associated P85a Is at Chromosome Region 5Ql2-13'
    [CANCER RESEARCH 5l. .1818-.1820, July 15, 1991| Advances in Brief The Human Gene Encoding Phosphatidylinositol-3 Kinase Associated p85a Is at Chromosome Region 5ql2-13' L. A. Cannizzaro, E. Y. Skolnik, B. Margolis, C. M. Croce, J. Schlesinger, and K. Huebner2 Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, Philadelphia, Pennsylvania 19140 [L. A. C., C. M. C., K. H.J, and Department of Pharmacology, New York University Medical Center, New York, New York 10016 [E. Y. S., B. M., J. S.J Abstract scribed previously (10, 11). Hybrids 9142 (full name GM9142), 114 (GM100114), 115 (GM100115), 7297 (GM7297), 7300 (GM7300), I In' human chromosomal location of the gene encoding the phospha- 449 (GM10449), 10095 (GM10095), and 7301 (GM7301) were ob tidylinositol-3 kinase associated protein, p85a, has been determined by tained from the National Institute of General Medical Sciences Human analysis of its segregation in rodent-human hybrids and by chromosome Genetic Mutant Cell Repository (Corieli Institute for Medical Re in situ hybridization using a complementary DNA clone, GRB-1. search, Camden, NJ). Human chromosomes or chromosome regions The gene for p85<*is at chromosome region 5ql3, perhaps near the retained by individual hybrids in the panel are illustrated in Fig. 1. gene encoding another receptor associated signal transducing protein, the Hybrids retaining partial chromosome 5 have also been described GTPase activating protein. previously (12). Filter Hybridization. DNA from mouse, human, and hybrid cell lines Introduction was obtained by a standard phenol-chloroform extraction procedure (10). Approximately 10 Mgof DNA were digested to completion with Skolnik et al.
    [Show full text]
  • Cytogenetic and Molecular Delineation of the Smallest Commonly Deleted Region of Chromosome 5 in Malignant Myeloid Diseases
    Proc. Natl. Acad. Sci. USA Vol. 90, pp. 5484-5488, June 1993 Medical Sciences Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases (myeloid leukemias/tumor-suppressor genes/fluorescence in situ hybridization/therapy-related leukemia) MICHELLE M. LE BEAU*, RAFAEL ESPINOSA III, WILMA L. NEUMAN, WENDY STOCK, DIANE ROULSTON, RICHARD A. LARSON, MAURI KEINANEN, AND CAROL A. WESTBROOK Section of Hematology/Oncology, The University of Chicago, Chicago, IL 60637-1470 Communicated by Janet D. Rowley, March 5, 1993 ABSTRACT Loss ofa whole chromosomeS or a deletion of nonmalignant diseases (4). Therapy-related MDS or AML its long arm (5q) is a recurring abnormality in malignant (t-MDS/t-AML) typically presents =5 years after treatment. myeloid neoplasms. To determine the location of genes on Sq Frequently, all three hematopoietic cell lines (erythroid, that may be involved in leukemogenesis, we examined the myeloid, and megakaryocytic) are involved in the myelo- deleted chromosome 5 homologs in a series of 135 patients with dysplastic process. Survival times ofpatients with t-AML are malignant myeloid diseases. By comparing the breakpoints, we usually short (median, 8 months). identified a small segment of 5q, consisting of band 5q31, that At the cytogenetic level, t-MDS/t-AML is characterized by was deleted in each patient. This segment has been termed the loss ofan entire chromosome 5 or7 or a deletion ofthe long arm critical region. Distal Sq contains a number of genes encoding of these chromosomes [del(5q)/del(7q)] (5, 6). In our recently growth factors, hormone receptors, and proteins involved in updated series of 129 consecutive patients with t-MDS/t-AML signal transduction or transcriptional regulation.
    [Show full text]
  • Down's Syndrome Phenotype and Autosomal Gene Inactivation in a Child with Presumed
    J Med Genet: first published as 10.1136/jmg.19.2.144 on 1 April 1982. Downloaded from 144 Case reports Down's syndrome phenotype and Case report autosomal gene inactivation in a The proband, a 3 2-year-old white female, was referred for evaluation of developmental delay and child with presumed (X;21) de novo dysmorphic features. She was the 1790 g,. 39 week translocation gestation product of a gravida 1, para 0, 15-year-old female. The pregnancy was complicated with SUMMARY A 32-year-old female with clinical recurrent urinary tract infections. The mother used features of Down's syndrome was found to have alcohol and tobacco in small quantities during the extra chromosome material on the long arm of pregnancy. The labour lasted ten hours and the one of the X chromosomes, 46,XXq+. The delivery was vaginal with vertex presentation. The parental karyotypes were normal. In the light baby breathed and cried spontaneously. Her of the clinical features of the proband and the immediate neonatal course was uneventful, but her subsequent weight gain was poor. She had several banding characteristics of the extra chromosome admissions to hospital for repeated diarrhoea, otitis material, the patient was thought to have a de media, and pneumonia. She had two 'febrile' seizures novo (X;21) translocation. The results of late for which she was placed on phenobarbital. Her replication studies with BUdR and enzyme development was markedly delayed. She smiled at superoxide dismutase (SOD) assays in the 4 months, turned over at 7 months, walked at 18 proband suggest that: (1) the presumed (X;21) months, and was not yet toilet trained.
    [Show full text]