Genomic structure and chromosomal assignment of the mouse Ku70 gene
- Los Alamos National Lab., NM (United States)
- Los Alamos National Lab., NM (United States); and others
DNA-dependent protein kinase (DNA-PK) consists of three polypeptide subunits: Ku70, Ku80, and the DNA-PK catalytic subunit (DNA-PKcs). Mammalian mutants deficient in either Ku80 or DNA-PKcs function have been shown to be lacking in DNA double-strand break repair and V(D)J recombination, respectively. The precise role of the Ku70 gene in this process has not yet been determined, in part because no cell lines, animals, or human diseases involved with deficiencies in this gene have yet been identified. Both the human and the mouse Ku70 cDNAs have been cloned, and the human gene has been mapped to chromosome 22q13. The original mouse cDNA clones, however, lacked a complete 5{prime}-region, and none of the mammalian Ku70 genomic sequences have been characterized. This report contains an analysis of the 5{prime}-region of the mouse cDNA sequence, a characterization of the mouse Ku70 genomic structure, and fluorescence in situ hybridization data that map the mouse gene to chromosome 15. The deduced amino acid sequence of the mouse gene consists of 608 amino acids compared to 609 for the human gene. The genomic sequence is 24 kb and consists of 13 exons, including an untranslated first exon. Sequences form the upstream region of exon 1 revealed four consensus GC box sequences and a strong transcription initiation site at a reasonable location. The assignment of the mouse Ku70 gene to chromosome 15 is consistent with the syntenic relationship of this gene in human (chromosome 22q13) and mouse and adds to the comparative mapping data for the genes involved in the SCID phenotype. 39 refs., 3 figs.
- OSTI ID:
- 466027
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 1 Vol. 35; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
AMINO ACID SEQUENCE
CHROMOSOMES
DNA
DNA REPAIR
DNA REPLICATION
DNA SEQUENCING
DNA-CLONING
FLUORESCENCE
GENE MUTATIONS
GENE RECOMBINATION
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 22
IN-SITU HYBRIDIZATION
MICE
PHENOTYPE
PHOSPHOTRANSFERASES
POLYMERASE CHAIN REACTION
PROTEINS
STRAND BREAKS
STRUCTURE-ACTIVITY RELATIONSHIPS
TRANSCRIPTION