The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.

Abstract:

:Retinal degeneration slow (rds) is a mouse neurological mutation that is characterized phenotypically by abnormal development of rod and cone photoreceptors followed by their slow degeneration. This phenotype resembles the pathologic abnormalities seen in retinitis pigmentosa. The mouse rds gene has recently been cloned. Here we present the sequence of a full-length cDNA clone of the human RDS mRNA. We show that in human retina there are two RDS transcripts of 3.0 and 5.5 kb. By analysis of DNA from a panel of human X hamster somatic cell hybrids, and by direct in situ hybridization, we show that the RDS gene is located on the proximal short arm of human chromosome 6. Finally, we present information on the frequency of several observed restriction fragment length polymorphisms using the RDS cDNA. This information is of potential value for testing linkage of the RDS gene to the disease phenotype in families with retinitis pigmentosa.

journal_name

Genomics

journal_title

Genomics

authors

Travis GH,Christerson L,Danielson PE,Klisak I,Sparkes RS,Hahn LB,Dryja TP,Sutcliffe JG

doi

10.1016/0888-7543(91)90457-p

subject

Has Abstract

pub_date

1991-07-01 00:00:00

pages

733-9

issue

3

eissn

0888-7543

issn

1089-8646

journal_volume

10

pub_type

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