The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA
| Autor: | R. S. Sparkes, Thaddeus P. Dryja, Gabriel H. Travis, J G Sutcliffe, L Christerson, Ivana Klisak, Patria E. Danielson, L B Hahn |
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| Rok vydání: | 1991 |
| Předmět: |
Retinal degeneration
congenital hereditary and neonatal diseases and abnormalities Molecular Sequence Data Peripherins Nerve Tissue Proteins Hybrid Cells Biology Mice Cricetulus Intermediate Filament Proteins Species Specificity Gene mapping Cricetinae Sequence Homology Nucleic Acid Complementary DNA Retinitis pigmentosa Genetics medicine Animals Humans Amino Acid Sequence Eye Proteins Peripherin 2 Gene Membrane Glycoproteins Base Sequence Retinal Degeneration Chromosome Mapping Chromosome DNA respiratory system medicine.disease Phenotype Molecular biology eye diseases Rats respiratory tract diseases Disease Models Animal Genes Cattle Chromosomes Human Pair 6 sense organs Polymorphism Restriction Fragment Length Retinitis Pigmentosa |
| Zdroj: | Genomics. 10:733-739 |
| ISSN: | 0888-7543 |
| DOI: | 10.1016/0888-7543(91)90457-p |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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