Genomic mapping of chromosomal region 2p15-p21 (D2S378-D2S391): Integration of Genemap'98 within a framework of yeast and bacterial artificial chromosomes

The region of chromosome 2 encompassed by the polymorphic markers D2S378 (c entromeric) and D2S391 (telomeric) spans an approximately 10-cM distance in cytogenetic bands 2p15-p21. This area is frequently involved in cytogeneti c alterations in human cancers. It also harbors the genes for several genet ic disorders, including Type I hereditary nonpolyposis colorectal cancer (H NPCC), familial male precocious puberty (FMPP), Carney complex (CNC), Doyne 's honeycomb retinal dystrophy (DHRD), and one form of familial dyslexia (D YX-3). Only a handful of known genes have been mapped to 2p16. These includ e MSH2, which is responsible for HNPCC, FSHR, the gene responsible for FMPP , EFEMP-1, the gene mutated in DHRD, GTBP, a DNA repair gene, and SPTBN1, n onerythryocytic beta-spectrin. The genes for CNC and DYX-3 remain unknown, due to lack of a contig of this region and its underrepresentation in the e xisting maps. This report presents a yeast- and bacterial-artificial chromo some (YAC and BAG, respectively) resource for the construction of a sequenc e-ready map of 2p15-p21 between the markers D2S378 and D2S391 at the centro meric and telomeric ends, respectively. The recently published Genemap'98 l ists 146 expressed sequence tags (ESTs) in this region; we have used our YA C-BAC map to place each of these ESTs within a framework of 40 known and 3 newly cloned polymorphic markers and 37 new sequence-tagged sites. This map provides an integration of genetic, radiation hy-brid, and physical mappin g information for the region corresponding to cytogenetic bands 2p15-p21 an d is expected to facilitate the identification of disease genes from the ar ea, (C) 1999 Academic Press.