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Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene


Bulting, Karin; Dlttrich, Bärbel; Groß, Stephanle; Greger, Valerle; Lalande, Marc; Robinson, Wendy; Mutirangura, Apiwat; Ledbetter, David; Horsthemke, Bernhard (1993). Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene. Human Molecular Genetics, 2(12):1991-1994.

Abstract

The Prader—Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct but closely linked genes on human chromosome 15. Based on a yeast artificial chromosome restriction map and two key patients we have determined that the shortest region of deletion overlap in the Prader—Willi syndrome comprises 320 kb. The region Includes the anonymous DNA marker PW71 (D15S63) and the gene for the small nuclear ribonucleoprotein N (SNRPN). The SNRPN gene maps 130 kb distal to PW71 and is transcribed from centromere to telomere

Abstract

The Prader—Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct but closely linked genes on human chromosome 15. Based on a yeast artificial chromosome restriction map and two key patients we have determined that the shortest region of deletion overlap in the Prader—Willi syndrome comprises 320 kb. The region Includes the anonymous DNA marker PW71 (D15S63) and the gene for the small nuclear ribonucleoprotein N (SNRPN). The SNRPN gene maps 130 kb distal to PW71 and is transcribed from centromere to telomere

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Item Type:Journal Article, refereed, original work
Communities & Collections:National licences > 142-005
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Molecular Biology
Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:1 January 1993
Deposited On:16 Oct 2018 12:38
Last Modified:15 Apr 2021 14:49
Publisher:Oxford University Press
ISSN:0964-6906
OA Status:Green
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1093/hmg/2.12.1991

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