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. 1993 Dec;2(12):1991-4.
doi: 10.1093/hmg/2.12.1991.

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

K Buiting  1 , B Dittrich, S Gross, V Greger, M Lalande, W Robinson, A Mutirangura, D Ledbetter, B Horsthemke
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Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene

K Buiting et al. Hum Mol Genet. 1993 Dec.

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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