Literature DB >> 8188289

A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33.

X Li1, C A Wise, D Le Paslier, A L Hawkins, C A Griffin, S J Pittler, M Lovett, E W Jabs.   

Abstract

The human chromosome 5q31--q33 region contains an interesting cluster of growth factor and receptor genes. In addition, several genetic disease loci have been localized within this region, but have not as yet been isolated as molecular clones. These include those loci involved in autosomal dominant limb-girdle muscular dystrophy, diastrophic dysplasia, Treacher Collins syndrome, and myeloid disorders associated with the 5q- syndrome. A yeast artificial chromosome (YAC) contig of this region would assist in the further localization and isolation of these genes. We have used YACs isolated from the Washington University and Centre d'Etude du Polymorphisme Humain YAC libraries, including YACs from the large insert (mega) YAC library to build a contig greater than 3 Mb in size. An STS content strategy coupled with limited walking from YAC ends was used to isolate 22 overlapping YACs with as much as sixfold coverage. A total of 20 STSs, derived from genes, anonymous sequences, and vector Alu-PCR or inverse PCR products, were used to compile this contig. The order of loci, centromere-GRL-D5S207-D5S70-D5S545-D5S546- D5S547-D5S68-D5S548-D5S210-D5S549- D5S686-ADRB2-D5S559-CSF1R-D5S551-RPS14+ ++-D5S519-SPARC-telomere, was derived from the overlapping clones. This contig and clones derived from it will be useful substrates in selecting candidate cDNAs for the disease loci in this interval.

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Year:  1994        PMID: 8188289     DOI: 10.1006/geno.1994.1096

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  4 in total

1.  A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

Authors:  W Brune; R G Weber; B Saul; M von Knebel Doeberitz; C Grond-Ginsbach; K Kellerman; H M Meinck; C M Becker
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

2.  Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7-10 Mb YAC contig of 5q34-q35.

Authors:  M Kostrzewa; D L Grady; R K Moyzis; L Flöter; U Müller
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

3.  TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.

Authors:  C A Wise; L C Chiang; W A Paznekas; M Sharma; M M Musy; J A Ashley; M Lovett; E W Jabs
Journal:  Proc Natl Acad Sci U S A       Date:  1997-04-01       Impact factor: 11.205

4.  A long-range physical map of human chromosome 21q22.1 band from the YAC continuum.

Authors:  T Eki; M Abe; K Furuya; I Ahmad; N Fujishima; H Kishida; A Shiratori; T Onozaki; K Yokoyama; D Le Paslier; D Cohen; F Hanaoka; Y Murakami
Journal:  Mamm Genome       Date:  1996-04       Impact factor: 2.957

  4 in total

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