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Titolo:
A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20
Autore:
Fossey, SC; Mychaleckyj, JC; Pendleton, JK; Snyder, JR; Bensen, JT; Hirakawa, S; Rich, SS; Freedman, BI; Bowden, DW;
Indirizzi:
Wake Forest Univ, Sch Med, Dept Biochem, Winston Salem, NC 27157 USA Wake Forest Univ Winston Salem NC USA 27157 , Winston Salem, NC 27157 USA Wake Forest Univ, Sch Med, Dept Physiol & Pharmacol, Winston Salem, NC 27157 USA Wake Forest Univ Winston Salem NC USA 27157 , Winston Salem, NC 27157 USA Wake Forest Univ, Sch Med, Dept Internal Med, Winston Salem, NC 27157 USA Wake Forest Univ Winston Salem NC USA 27157 , Winston Salem, NC 27157 USA Wake Forest Univ, Sch Med, Dept Publ Hlth Sci, Winston Salem, NC 27157 USAWake Forest Univ Winston Salem NC USA 27157 , Winston Salem, NC 27157 USA
Titolo Testata:
GENOMICS
fascicolo: 1-3, volume: 76, anno: 2001,
pagine: 45 - 57
SICI:
0888-7543(200108)76:1-3<45:AH6TMO>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEPATOCYTE NUCLEAR FACTOR-4-ALPHA; HUMAN GENOME; GLUCOSE TRANSPORTERS; INSULIN-RESISTANCE; MISSENSE MUTATION; ONSET NIDDM; SIB PAIRS; LINKAGE; GENE; MELLITUS;
Keywords:
diabetes mellitus; physical map; chromosome 20; transcript map; genomics software; diabetes genetics;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Bowden, DW Wake Forest Univ, Sch Med, Dept Biochem, Winston Salem, NC 27157 USA Wake Forest Univ Winston Salem NC USA 27157 alem, NC 27157 USA
Citazione:
S.C. Fossey et al., "A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20", GENOMICS, 76(1-3), 2001, pp. 45-57

Abstract

Recent linkage studies and association analyses indicate the presence of at least one type 2 diabetes susceptibility gene in human chromosome region 20q12-q13.1. We have constructed a high-resolution 6.0-megabase (Mb) transcript map of this interval using two parallel, complementary strategies to construct the map. We assembled a series of bacterial artificial chromosome (BAC) contigs from 56 overlapping BAC clones, using STS/marker screening of42 genes, 43 ESTs, 38 STSs, 22 polymorphic, and 3 BAC end sequence markers. We performed map assembly with GraphMap, a software program that uses a greedy path searching algorithm, supplemented with local heuristics. We anchored the resulting BAC contigs and oriented them within a yeast artificial chromosome (YAC) scaffold by observing the retention patterns of shared markers in a panel of 21 YAC clones. Concurrently, we assembled a sequence-based map from genomic sequence data released by the Human Genome Project, using a seed-and-walk approach. The map currently provides near-continuous coverage between SGC32867 and WI-17676 (similar to 6.0 Mb). EST database searches and genomic sequence alignments of ESTs, mRNAs, and UniGene clusters enabled the annotation of the sequence interval with experimentally confirmedand putative transcripts. We have begun to systematically evaluate candidate genes and novel ESTs within the transcript map framework. So far, however, we have found no statistically significant evidence of functional allelic variants associated with type 2 diabetes. The combination of the BAC transcript map, YAC-to-BAC scaffold, and reference Human Genome Project sequence provides a powerful integrated resource for future genomic analysis of this region.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 15:40:14