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A novel tandem repeat sequence located on human chromosome 4p: isolation and characterization
M Kogi1, S Fukushige, C Lefevre
1Ikeda Genosphere Project, ERATO, JRDC, Tokai University School of Medicine, Kanagawa, Japan.
Genomics
|June 1, 1997
Summary
Researchers identified a novel tandem repeat sequence, CRS447/pRS447, on human chromosome 4p. This sequence, located in the 4p15.1-15.3 region, may be significant for understanding genetic diseases mapped to this area.
Area of Science:
- Genomics
- Molecular Biology
- Human Genetics
Background:
- The human chromosome 4p, particularly its distal region, is associated with significant genetic disorders.
- Understanding the genomic structure of chromosome 4p is crucial for disease gene identification.
Purpose of the Study:
- To analyze a specific genomic region on human chromosome 4p.
- To isolate and characterize novel repeat sequences within this region.
Main Methods:
- Cosmid clone isolation and detailed analysis (chromosome mapping, restriction mapping, DNA sequencing).
- Fluorescence in situ hybridization (FISH) and human-CHO hybrid cell panel for chromosome mapping.
- Subcloning and DNA sequencing of repeat units.
- Database searches for sequence homology.
Main Results:
- A cosmid clone, CRS447, was isolated and mapped to the 4p15.1-15.3 region of human chromosome 4p.
- CRS447 contains tandem repeats of a 4.7-kb unit, with the sequenced unit named pRS447 (4752 nucleotides).
- The repeat sequence is novel, present in 50-70 copies per haploid genome, and contains CA repeats and a putative ORF.
Conclusions:
- CRS447/pRS447 represents a newly discovered tandem repeat sequence.
- This novel sequence is predominantly specific to human chromosome 4p.
- The findings provide a new genetic marker for the 4p region, potentially aiding in disease research.