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PMID: 1608955 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 89 ·No. 12 ·1992-06-15 ·Pages 5457-61

Buiting K, Greger V, Brownstein BH, Mohr RM, Voiculescu I, Winterpacht A, Zabel B, Horsthemke B

Abstract

The genetic defects in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) map to 15q11-13. Using microdissection, we have recently isolated several DNA probes for the critical region. Here we report that microclone MN7 detects multiple loci in 15q11-13 and 16p11.2. Eight yeast artificial chromosome (YAC) clones, two genomic phage clones, and two placenta cDNA clones were isolated to analyze these loci in detail. Two of the YAC clones map to 16p. Six YAC clones and two genomic phage clones contain a total of four or five different MN7 copies, which are spread over a large distance within 15q11-13. One cDNA clone is from chromosome 15 and one is from chromosome 16. The chromosome 15 cDNA detects transcripts of 14 and 8 kilobases in various human tissues. The presence of multiple copies of the MN7 gene family in proximal 15q may conceivably be related to the instability of this region and thus to the etiology of associated disorders.

MeSH Terms
Base Sequence Blotting, Southern Chromosome Banding Chromosome Mapping Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 16 Cloning, Molecular DNA/genetics,isolation & purification DNA Probes Humans Intellectual Disability/genetics Laughter Molecular Sequence Data Multigene Family Oligodeoxyribonucleotides Polymerase Chain Reaction Prader-Willi Syndrome/genetics RNA, Messenger/analysis,genetics Saccharomyces cerevisiae/genetics Syndrome
Chemicals
DNA Probes Oligodeoxyribonucleotides RNA, Messenger DNA
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Buiting K
Institut für Humangenetik, Universitätsklinikum Essen, Federal Republic of Germany.
Greger V
Brownstein B H
Mohr R M
Voiculescu I
Winterpacht A
Zabel B
Horsthemke B
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.89.12.5457
Published
1992-06-15
Pages
5457-61
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC49311
Subset
IM
External Links
PubMed source DOI: 10.1073/pnas.89.12.5457 PMC Full Text View journal details
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