Literature DB >> 7490071

A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p.

T J Keen1, C F Inglehearn, E D Green, A F Cunningham, R J Patel, R E Peacock, S Gerken, R White, J Weissenbach, S S Bhattacharya.   

Abstract

The dominant retinitis pigmentosa locus RP9 has previously been localized to 7p13-p15, in the interval D7S526-D7S484. We now report refinement of the locus to the interval D7S795-D7S484 and a YAC contig of approximately 4.8 Mb spanning this region and extending both distally and proximally from it. The contig was constructed by STS content mapping and physically orders 29 STSs in 28 YAC clones. The order of polymorphic markers in the contig is consistent with a genetic map that has been assembled using haplotype data from the CEPH pedigrees. This contig will provide a primary resource for the construction of a transcriptional map of this region and for the identification of the defective gene causing this form of adRP.

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Year:  1995        PMID： 7490071     DOI： 10.1006/geno.1995.1165

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


  7 in total

1.  Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

Authors:  T L McGee; M Devoto; J Ott; E L Berson; T P Dryja
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

2.  OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Authors:  R Varga; M R Avenarius; P M Kelley; B J Keats; C I Berlin; L J Hood; T G Morlet; S M Brashears; A Starr; E S Cohn; R J H Smith; W J Kimberling
Journal:  J Med Genet       Date:  2005-12-21       Impact factor: 6.318

Review 3.  The genetics of complex ophthalmic disorders.

Authors:  K Evans; A C Bird
Journal:  Br J Ophthalmol       Date:  1996-08       Impact factor: 4.638

4.  A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Authors:  C F Inglehearn; E E Tarttelin; C Plant; R E Peacock; M al-Maghtheh; E Vithana; A C Bird; S S Bhattacharya
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

5.  Elucidation of signaling properties of vasopressin receptor-related receptor 1 by using the chimeric receptor approach.

Authors:  Jamila Gupte; Gene Cutler; Jin-Long Chen; Hui Tian
Journal:  Proc Natl Acad Sci U S A       Date:  2004-02-02       Impact factor: 11.205

6.  Prioritization of retinal disease genes: an integrative approach.

Authors:  Alex H Wagner; Kyle R Taylor; Adam P DeLuca; Thomas L Casavant; Robert F Mullins; Edwin M Stone; Todd E Scheetz; Terry A Braun
Journal:  Hum Mutat       Date:  2013-04-12       Impact factor: 4.878

7.  Loss of heterozygosity at 7p in Wilms' tumour development.

Authors:  R M Powlesland; A K Charles; K T Malik; P A Reynolds; S Pires; M Boavida; K W Brown
Journal:  Br J Cancer       Date:  2000-01       Impact factor: 7.640
  7 in total

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