INTEGRATED MAP OF THE CHROMOSOME 8P12-P21 REGION, A REGION INVOLVED IN HUMAN CANCERS AND WERNER SYNDROME

Detailed physical maps of the human genome are important resources for the identification and isolation of disease genes and for studying th e structure and function of the genome. To improve the definition of t he 8p12-p21 chromosomal region, an integrated physical and genetic map was constructed extending from the genes NEFL to FGFR1. The map compr ises a series of contigs (the larger of these being around 9 Mb) of ye ast artificial chromosomes (YACs) spanning the proximal region of dele tion involved in a broad range of human cancers, including breast carc inomas, and in the Werner syndrome. In addition, losses of heterozygos ity at 8p markers and linkage analysis of breast cancer families were also detailed. Finally, several genes potentially involved in 8p-assoc iated diseases, namely GTF2E2, PPP2CB, and HGL, were precisely mapped within the YAC contigs. The reported map and contigs of YACs should fa cilitate the search for putative genes involved in sporadic and famili al breast cancer as well as in the Werner syndrome. (C) 1996 Academic Press, Inc.