Williams Syndrome Medline Alert - April 1998

From the Medical Literature - April 1998


Record  1

PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Osborne LR; Herbrick JA; Greavette T; Heng HH; Tsui LC; Scherer SW Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada. Genomics (UNITED STATES) Oct 15 1997, 45 (2) p402-6, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE

The human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMS2L genes) have been localized to human chromosome 7. Human PMS2 has been mapped previously to 7p22 and shown to be causative in hereditary nonpolyposis colon cancer (HNPCC), but the human PMS2L genes have not been positioned in the context of the physical or genetic map of chromosome 7. In this study we have used various mapping methodologies to determine the precise location of the human PMS2L genes at 7q11.22, 7q11.23, and 7q22. Within 7q11.23, human PMS2L genes were found to be present at at least three sites as part of duplicated genomic segments that flank the most common rearrangement breakpoints in Williams syndrome. Copyright 1997 Academic Press.


Record 2

Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23. Wedemeyer N; Peoples R; Himmelbauer H; Lehrach H; Francke U; Wanker EE Max-Planck-Institut fur Molekulare Genetik, Berlin, Dahlem, Germany. Genomics (UNITED STATES) Dec 1 1997, 46 (2) p313-5, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE


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