Identification and partial characterization of a candidate gene for X-linked retinopathies using a lateral approach.
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.
Wong
P
P
Department of Biochemistry, University of Ottawa, Ontario, Canada.
MacDonald
I M
IM
Sood
R
R
Smith
C
C
Pilon
R
R
Tenniswood
M
M
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D002829:Choroid / Q000378:metabolism; D002874:Chromosome Mapping; D006224:Cricetinae; D004247:DNA; D015723:Gene Library; D008040:Genetic Linkage; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D012160:Retina / Q000378:metabolism; D012164:Retinal Diseases / Q000235:genetics*; D014960:X Chromosome
D004247:DNA