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Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination


Robinson, Wendy P; Spiegel, Roland; Schinzel, Albert (1993). Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination. Human Genetics, 91(2):181-184.

Abstract

Deletions of 15q11.2-q12 are associated with either the Prader-Willi (PWS) or Angelman (AS) syndromes. It has been suggested that excessive recombination in this region might explain the high frequency of such deletions, and the frequent involvement of chromosome 15 in translocations and nondisjunction. We have studied recombination in the PWS region by linkage analysis of non-PWS families. No recombination was found (with maximum lod scores greater than 3.0) for most pair-wise combinations of probes: 39, IR4-3R, ML34, 189-1, 3-21. A 'hotspot' of recombination is observed between loci detected by p3-21 and pIR10-1. The female recombination fraction in this region was significantly higher than that for males. Close linkage with 0.06 recombination was found for the IR10-1 and CMW-1 pair. No excess recombination was found between sites bounding common breakpoints observed in deletions associated with PWS and AS. It is suggested that these deletions form frequently because of the presence of duplicated DNA sequences and/or inversions in this region, and not because of a high rate of homologous recombination.

Abstract

Deletions of 15q11.2-q12 are associated with either the Prader-Willi (PWS) or Angelman (AS) syndromes. It has been suggested that excessive recombination in this region might explain the high frequency of such deletions, and the frequent involvement of chromosome 15 in translocations and nondisjunction. We have studied recombination in the PWS region by linkage analysis of non-PWS families. No recombination was found (with maximum lod scores greater than 3.0) for most pair-wise combinations of probes: 39, IR4-3R, ML34, 189-1, 3-21. A 'hotspot' of recombination is observed between loci detected by p3-21 and pIR10-1. The female recombination fraction in this region was significantly higher than that for males. Close linkage with 0.06 recombination was found for the IR10-1 and CMW-1 pair. No excess recombination was found between sites bounding common breakpoints observed in deletions associated with PWS and AS. It is suggested that these deletions form frequently because of the presence of duplicated DNA sequences and/or inversions in this region, and not because of a high rate of homologous recombination.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics, Genetics (medical), Internal Medicine, Metabolic Disease, Homologous Recombination, Linkage Analysis, Close Linkage
Language:English
Date:March 1993
Deposited On:24 Apr 2023 09:03
Last Modified:29 Apr 2024 01:37
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/BF00222722
PubMed ID:8462978