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The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA
G H Travis1, L Christerson, P E Danielson
1University of Texas Southwestern Medical Center, Department of Psychiatry, Dallas 75235.
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.
Insights
Researchers identified the human RDS gene sequence and located it on chromosome 6. This finding is crucial for understanding retinitis pigmentosa and developing diagnostic tools for retinal degeneration.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Retinal degeneration slow (RDS) is a mouse mutation affecting photoreceptor development and survival.
- The RDS mutation's phenotype mirrors human retinitis pigmentosa.
- The mouse RDS gene has been previously cloned.
Purpose of the Study:
- To present the full-length cDNA sequence of the human RDS mRNA.
- To determine the chromosomal location of the human RDS gene.
- To analyze restriction fragment length polymorphisms (RFLPs) of the RDS gene.
Main Methods:
- cDNA cloning and sequencing of human RDS mRNA.
- Analysis of human X hamster somatic cell hybrids for gene mapping.
- In situ hybridization to confirm gene localization.
- Restriction fragment length polymorphism (RFLP) analysis.
Main Results:
- The complete sequence of the human RDS mRNA full-length cDNA was determined.
- Two human RDS transcripts (3.0 and 5.5 kb) were identified in the retina.
- The human RDS gene was localized to the proximal short arm of chromosome 6.
- Frequencies of several RDS gene RFLPs were reported.
Conclusions:
- The human RDS gene sequence and its chromosomal location provide a basis for further research.
- Understanding RDS gene variations can aid in diagnosing retinitis pigmentosa.
- The identified RFLPs are valuable for genetic linkage studies in retinitis pigmentosa families.