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Possible Implications for Prader-Willi and Angelman Syndromes KARIN Buiting*, VALERIE GREGER*, BERNHARD H

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Possible Implications for Prader-Willi and Angelman Syndromes KARIN Buiting*, VALERIE GREGER*, BERNHARD H Proc. Nadl. Acad. Sci. USA Vol. 89, pp. 5457-5461, June 1992 Medical Sciences A putative gene family in 15q11-13 and 16pll.2: Possible implications for Prader-Willi and Angelman syndromes KARIN BuITING*, VALERIE GREGER*, BERNHARD H. BROWNSTEINt, ROSE M. MOHRt, ION VOICULESCuO, ANDREAS WINTERPACHT§, BERNHARD ZABEL§, AND BERNHARD HORSTHEMKE*¶ *Institut for Humangenetik, Universititsklinikum Essen, 4300 Essen 1, Federal Republic of Germany; tCenter for Genetics in Medicine, Washington University, St. Louis, MO 63110; tInstitut fOr Humangenetik und Anthropologie, Universitit Freiburg, 7800 Freiburg, Federal Republic of Germany; and §Kinderklinik, UniversitAt Mainz, 6500 Mainz, Federal Republic of Germany Communicated by Victor A. McKusick, February 13, 1992 ABSTRACT The genetic defects in Prader-Willi syndrome of mouse A9 cells with lymphoblastoid cells from PWS (PWS) and Angelman syndrome (AS) map to 15q11-13. Using patient 168 (14) as described by Wigler et al. (15). The somatic microdissection, we have recently isolated several DNA probes cell hybrid mapping panels were kindly provided by G. Bruns for the critical region. Here we report that microclone MN7 (Boston) (panel I) and K. H. Grzeschik (Marburg) (panel II). detects multiple loci in 15q11-13 and 16pll.2. Eight yeast Genomic DNA Analysis. Genomic DNA was analyzed by artificial chromosome (YAC) clones, two genomic phage Southern blot hybridization as described (16). The final wash clones, and two placenta cDNA dones were isolated to analyze was usually at 650C in 150 mM sodium chloride/15 mM these loci in detail. Two ofthe YAC clones map to 16p. Six YAC sodium citrate (lx SSC) containing 0.1% SDS. The following clones and two genomic phage clones contain a total of four or probes were used: HuD2 (IGHDY2) (17), MN60 (D15564) five different MN7 copies, which are spread over a large (14), MN8 (D15S77) (14), MN47 (D15S78) (14), MN43 distance within 15q11-13. One cDNA clone is from chromo- (D15S80) (14), MN28 (D15S81) (14), PW66 (D15S79) (14), some 15 and one is from chromosome 16. The chromosome 15 PW71 (D15S63) (14), ML34 (D15S9) (13), 3-21 (D15S10) (13), cDNA detects transcripts of 14 and 8 kilobases in various IR4-3R (D15S11) (13), IR10-1 (D15S12) (13), IR39 (D15S18) human tissues. The presence ofmultiple copies ofthe MN7 gene (13), 28,33-H3 (GABRB3) (18), CMW1 (D15S24) (19), c-fes family in proximal 15q may conceivably be related to the (fps/fes protooncogene). ML34, 3-21, IR4-3R, IR10-1, IR39, instability of this region and thus to the etiology of assoiated and 28p3-H3 were kindly provided by M. Lalande (Boston). disorders. HuD2 was a gift from P. Leder (Boston). CMW1 was kindly provided by D. Ledbetter (Houston). c-fes was from Amer- sham. For PCR analysis of genomic Bgl II fragments, the The Prader-Willi syndrome (PWS) is a complex disorder fragments were separated on low-melting-point agarose gels, whose major features include severe infantile hypotonia, excised from the gel, and purified with Geneclean (Bio 101, failure to thrive, hypothalamic dysfunction causing genital La Jolla, CA). hypoplasia and pubertal insufficiency, hyperphagia with obe- DNA Amplification. PCR primers were synthesized on an sity developing after the neonatal period, small hands and Applied Biosystems DNA synthesizer (model 391). Amplifi- feet, short stature, and mental retardation (1). PWS occurs in cation was carried out with the help of a thermal cycler -1/25,000 live births. About 60%o of the PWS patients have (Perkin-Elmer/Cetus) in a total vol of 100 jul containing 50 deletions or other chromosomal abnormalities (transloca- mM KCl, 10 mM Tris-HCl (pH 8.0), 1.5 mM MgCI2, 0.01% tions or duplications) on the proximal long arm of chromo- gelatin, 200 ,uM each dNTP, and 2.0 units of Taq DNA some 15 (15q11.2-12) (2, 3). Interestingly, similar deletions polymerase. MN7 sequences were amplified with 0.5 ,uM are found in "50% ofpatients with Angelman syndrome (AS) primers MN7a and MN7b (see below) from 10 ng of genomic (4-8). AS is characterized by mental retardation, jerky DNA or 100 ng of total yeast DNA in 35 cycles of denatur- movements, paroxysms of laughter, protruding tongue, a ation (940C for 1 min), annealing (520C for 2 min), and characteristic facial appearance, microcephaly, and an ab- extension (72°C for 3 min). The samples were boiled for 5 min normal electroencephalogram pattern (9). The deletion in before Taq DNA polymerase was added. Interspersed repet- PWS patients is of paternal origin (10), whereas deletions in itive sequence (IRS) PCR (20) was carried out with 1 ,ug of AS are of maternal origin (11). Findings of maternal disomy total yeast DNA for 35 cycles of denaturation (94°C for 1 of chromosome 15q11-13 in PWS patients (11) and paternal min), annealing (55°C for 1 min), and extension (72°C for 4 disomy in AS patients (12) suggest that genomic imprinting min). The samples were boiled for 10 min before Taq DNA affects the expression of genes in proximal 15q. As the polymerase was added. Primer 517 was used at 0.3 ,uM, and biochemical defects in both syndromes are unknown, posi- primer PDJ34 was used at 0.1 ,AM. PCR primer sequences are tional cloning has to be used to identify these genes. Donlon as follows: MN7a, 5'-ACCTGATCGCCCCATTTCCA-3'; et al. (13) used flow sorting to isolate DNA markers for MN7b, 5'-ACTTTGTGAATGTTTTGTGT-3'; 517, 5'- proximal 15q. Using microdissection and microcloning of CGACCTCGAGATCT(C/T)(G/A)GCTCACTGCAA-3'; banded metaphase chromosomes, we have recently isolated PDJ34, 5'-TGAGC(C/T)(G/A)(A/T)GAT(C/T)(G/A)(C/ several clones from this region (14). Here we report the T)(C/A)CCA(C/T)TGCACTCCAGCCTGGG-3'. detailed characterization of the microclone MN7. Isolation of Yeast Artificial Chromosomes (YACs) and Ge- nomic Phage Clones. Screening the YAC library ofthe Center MATERIALS AND METHODS for Genetics in Medicine (Washington University) for YACs containing cognate sequences for MN7 was performed es- Somatic Cell Hybridization. Somatic cell hybrids Hz16 and sentially as described by Brownstein et al. (21) and by Green Hz31 were obtained by polyethylene glycol-stimulated fusion Abbreviations: PWS, Prader-Willi syndrome; AS, Angelman syn- The publication costs of this article were defrayed in part by page charge drome; IRS, interspersed repetitive sequence; YAC, yeast artificial payment. This article must therefore be hereby marked "advertisement" chromosome; TAFE, transverse alternating field electrophoresis. in accordance with 18 U.S.C. §1734 solely to indicate this fact. ITo whom reprint requests should be addressed. 5457 Downloaded by guest on October 4, 2021 5458 Medical Sciences: Buiting et al. Proc. Natl. Acad. Sci. USA 89 (1992) and Olson (22). A human genomic phage library in AL47.1 Table 1. YACs containing cognate sequences for MN7 (23) was screened by hybridization with MN7. Among Fragment 500,000 clones screened, 12 positive plaques were identified. containing Two clones (A7.7 and A7.12) were plaque purified in two rounds. Size, MN7, kb Chromo- Pulsed-Field Gel Analysis. High molecular weight yeast YAC Name kb Bgi II Dra I some DNA in agarose plugs was prepared as described by Carle 1 A86C1 600 9.0 3.0 15 and Olson (24). Yeast chromosomes were separated by 5.0 transverse alternating field electrophoresis (TAFE; Beck- 2 A162B10 310 9.0 3.0 15 man) in 10 mM Tris HCI/0.5 mM EDTA (free acid)/4.4 mM 3 A208G12 260 9.0 3.0 15 acetic acid, pH 8.2. Running conditions were 1 hr with 4-sec 4 A137C11 180 9.0 3.0 15 pulses at 170 mA followed by 21 hr with 50-sec pulses at 150 5 A85A5 180 9.0 3.0 15 mA or 22 hr with 25-sec pulses at 150 mA at 14°C buffer 6 A31D2 350 9.0 3.0 15 temperature. DNA was stained with ethidium bromide. Sac- 7 A85H4 250 9.0 1.3 16 charomyces cerevisiae chromosomes (strain 334; Beckman) 8 A28F11 300 9.0 1.3 16 were used as size markers. Isolation and Characterization of cDNA Clones. Approxi- RESULTS mately 1 x 106 phages from a human placenta 5'-Stretch Genomic DNA Analysis and Somatic Cell Genetics. MN7 is a cDNA library (Clontech) were screened with probe MN7. Six 275-base-pair (bp) microclone, which does not contain recog- positive clones were found, and two clones (c7.541 and nition sites for Dra I and Bgl II. Southern blot analysis ofDra c7.681) were plaque purified. c7.541 was used to probe a I- and Bgl II-digested human DNA with MN7, however, human multiple tissue Northern (MTN) blot (Clontech) con- revealed multiple bands (Fig. 1, lanes ME). In Dra I-digested taining 2 ,ug of poly(A)+ RNA from placenta and adult brain, DNA, two fragments of 3.0 and 1.3 kilobases (kb) are ob- heart, liver, kidney, pancreas, and skeletal muscle. Final served. The numberofBgl II fragments varies between normal washing of the filter was at 50°C in O.lx SSC/0.1% SDS. individuals. Of 12 unrelated individuals tested, 12 had the 9.0-, In Situ Chromosome Hybridization. The cDNA c7.681 was 5.0-, and 3.0-kb Bgl II fragment; one had the 20-kb fragment; 3H-labeled by the random priming method (5 x 107 cpm per and nine had the 5.5-kb fragment (data not shown). For ,ug of DNA) and hybridized to normal human lymphocyte chromosomal localization of these fragments, we screened (pro)metaphase chromosomes as described (25). two somatic cell hybrid mapping panels. The results obtained Sequence Analysis. PCR product (20 ng) was purified on with panel I are shown in Fig.
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