Identification and partial characterization of a candidate gene for X-linked retinopathies using a lateral approach.

Abstract:

:Using library to library cross-screening we have identified a number of genomic clones that harbor X-linked sequences expressed in the human choroid/retina. We describe the characterization of one of these, designated XEH.8 (DXS542), which is localized to Xp11.3-q12. Isolation, partial sequencing, and Northern analysis of the cognate cDNA (XEH.8c), has shown that the cDNA has some homology to the dystrophin gene and hybridizes to a 10-kb mRNA present in the choroid and retina but not in fibroblasts. This expressed sequence maps to the same region of the X chromosome as several known X-linked ophthalmic diseases, including Norrie disease, retinitis pigmentosa 2, congenital night blindness and Aland Island eye disease.

journal_name

Genomics

journal_title

Genomics

authors

Wong P,MacDonald IM,Sood R,Smith C,Pilon R,Tenniswood M

doi

10.1006/geno.1993.1096

subject

Has Abstract

pub_date

1993-03-01 00:00:00

pages

467-71

issue

3

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(83)71096-7

journal_volume

15

pub_type

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