Genomic Structure and Chromosomal Assignment of the Mouse Ku70 Gene

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...

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Bibliographic Details
Published in:	Genomics (San Diego, Calif.) Vol. 35; no. 1; pp. 129 - 135
Main Authors:	Takiguchi, Yuichi, Kurimasa, Akihiro, Chen, Fanqing, Pardington, Paige E., Kyama, Takayuki, Okinaka, Richard T., Moyzis, Robert, Chen, David J.
Format:	Journal Article
Language:	English
Published:	San Diego, CA Elsevier Inc 01-07-1996 Elsevier
Subjects:	Animals Base Sequence Biological and medical sciences Chromosome Mapping Classical genetics, quantitative genetics, hybrids Cloning, Molecular DNA Repair - genetics DNA, Complementary - genetics DNA-Activated Protein Kinase DNA-Binding Proteins Female Fundamental and applied biological sciences. Psychology Genes Genetics of eukaryotes. Biological and molecular evolution Humans Male Mice - genetics Molecular Sequence Data Nuclear Proteins Protein-Serine-Threonine Kinases - genetics Sequence Homology, Nucleic Acid Species Specificity Vertebrata Genetic mapping Nucleotide sequence Enzyme Transcription promoter Transferases Rodentia Gene organization Double strand break Vertebrata Mammalia Gene Mouse Protein kinase DNA Chromosome DNA Chromosome 15 Repair
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Summary:	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′-region, and none of the mammalian Ku70 genomic sequences have been characterized. This report contains an analysis of the 5′-region of the mouse cDNA sequence, a characterization of the mouse Ku70 genomic structure, and fluorescencein situhybridization 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 from 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.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	0888-7543 1089-8646
DOI:	10.1006/geno.1996.0331