The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.
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.
University of Texas Southwestern Medical Center, Department of Psychiatry, Dallas 75235.
G H
GH
Travis
L
L
Christerson
P E
PE
Danielson
I
I
Klisak
R S
RS
Sparkes
L B
LB
Hahn
T P
TP
Dryja
J G
JG
Sutcliffe
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle / Q000235:genetics; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D006224:Cricetinae; D003412:Cricetulus; D004247:DNA / Q000235:genetics; D004195:Disease Models, Animal; D005136:Eye Proteins / Q000235:genetics*; D005796:Genes; D006801:Humans; D006822:Hybrid Cells; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D051379:Mice / Q000235:genetics; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D064531:Peripherins; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D051381:Rats / Q000235:genetics; D012162:Retinal Degeneration / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578997:PRPH2 protein, human; D064531:Peripherins; C578996:Prph2 protein, mouse; C579003:Prph2 protein, rat; D004247:DNA