title: Genomic mapping of chromosomal region 2p15-p21 (D2S378-D2S391): integration of Genemap'98 within a framework of yeast and bacterial artificial chromosomes.
abstract: The region of chromosome 2 encompassed by the polymorphic markers D2S378 (centromeric) and D2S391 (telomeric) spans an approximately 10-cM distance in cytogenetic bands 2p15-p21. This area is frequently involved in cytogenetic alterations in human cancers. It also harbors the genes for several genetic disorders, including Type I hereditary nonpolyposis colorectal cancer (HNPCC), familial male precocious puberty (FMPP), Carney complex (CNC), Doyne's honeycomb retinal dystrophy (DHRD), and one form of familial dyslexia (DYX-3). Only a handful of known genes have been mapped to 2p16. These include 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, nonerythryocytic 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 existing maps. This report presents a yeast- and bacterial-artificial chromosome (YAC and BAC, respectively) resource for the construction of a sequence-ready map of 2p15-p21 between the markers D2S378 and D2S391 at the centromeric and telomeric ends, respectively. The recently published Genemap'98 lists 146 expressed sequence tags (ESTs) in this region; we have used our YAC-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 hybrid, and physical mapping information for the region corresponding to cytogenetic bands 2p15-p21 and is expected to facilitate the identification of disease genes from the area.
authors.affiliation: Developmental Endocrinology Branch, National Institutes of Health, Bethesda, Maryland 20892, USA. kirschnl@mail.nih.gov
authors.forename: L S
authors.initials: LS
authors.lastname: Kirschner
authors.forename: S E
authors.initials: SE
authors.lastname: Taymans
authors.forename: S
authors.initials: S
authors.lastname: Pack
authors.forename: E
authors.initials: E
authors.lastname: Pak
authors.forename: B L
authors.initials: BL
authors.lastname: Pike
authors.forename: S C
authors.initials: SC
authors.lastname: Chandrasekharappa
authors.forename: Z
authors.initials: Z
authors.lastname: Zhuang
authors.forename: C A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D016386:Chromosome Walking; D018244:Chromosomes, Artificial, Yeast; D002876:Chromosomes, Bacterial; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D004274:DNA, Recombinant / Q000235:genetics; D004410:Dyslexia / Q000235:genetics; D020224:Expressed Sequence Tags; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005819:Genetic Markers; D005832:Genital Diseases, Male / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D012164:Retinal Diseases / Q000235:genetics
chemical_list: D004274:DNA, Recombinant; D005819:Genetic Markers