An insertion of intracisternal A-particle retrotransposon in a novel member of the phosphoglycerate mutase family in the lew allele of mutant mice

Genes and Genetic Systems

Volumn 84, Issue 5, 2009, Pages 327-334

  Jiao, Yan ^a,b   Jin, Xiudong ^b   Yan, Jian ^a   Jiao, Feng ^a   Li, Xinmin ^c   Roe, Bruce A ^d   Jarrett, Harry W ^e   Gu, Weikuan ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b MUDANJIANG MEDICAL UNIVERSITY   (China)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF OKLAHOMA   (United States)

^e UNIVERSITY OF TEXAS AT SAN ANTONIO   (United States)

Author keywords

Glycolysis; High throughput screening; Insertion; Intracisternal type A particle element; Phosphoglycerate mutase

Indexed keywords

ENVELOPE PROTEIN; PHOSPHOGLYCERATE MUTASE; SYNAPTOBREVIN 1;

9630033F20RIK GENE; ALLELE; ANIMAL TISSUE; ARTICLE; BRAIN METABOLISM; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE INSERTION; GENETIC SCREENING; GLYCOLYSIS; HEART MUSCLE METABOLISM; LETHAL WASTING; MALE; MICROARRAY ANALYSIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE; PHENOTYPE; PROTEIN FAMILY; PROTEIN SYNTHESIS; RETROPOSON; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; TRANSCRIPTION REGULATION; WASTING SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; GENE EXPRESSION PROFILING; GENES, INTRACISTERNAL A-PARTICLE; GLYCOLYSIS; MICE; MICE, NEUROLOGIC MUTANTS; MOLECULAR SEQUENCE DATA; MUSCLES; MUTAGENESIS, INSERTIONAL; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHOSPHOGLYCERATE MUTASE; VESICLE-ASSOCIATED MEMBRANE PROTEIN 1; WASTING SYNDROME;

INTRACISTERNAL A-PARTICLES; MUS;

EID: 76749168994     PISSN: 13417568     EISSN: None     Source Type: Journal    
DOI: 10.1266/ggs.84.327     Document Type: Article

References (18)

1. Besse, S., Allamand, V., Vilquin, J. T., Li, Z., Poirier, C., Vignier, N., Hori, H., Guenet, J.L., and Guicheney, P. (2003) Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene. Neuromuscul. Disord. 13, 216-222.
2. Cao, P. R., Kim, H. J., and Lecker, S. H. (2005) Ubiquitin-protein ligases in muscle wasting. Int. J. Biochem. Cell Biol. 37, 2088-2097.
3. Comi, G. P., Fortunato, F., Lucchiari, S., Bordoni, A., Prelle, A., Jann, S., Keller, A., Ciscato, P., Galbiati, S., Chiveri, L., Torrente, Y., Scarlato, G., and Bresolin, N. (2001) Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann. Neurol. 50, 202-207.
4. DiMauro, S., Miranda, A. F., Khan, S., Gitlin, K., and Friedman, R. (1981) Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science 212, 1277-1279.
5. Emery, A. E. (2002) The muscular dystrophies. Lancet 359, 687-695.
6. Gwynn, B., Lueders, K., Sands, M. S., and Birkenmeier, E. H. (1998) Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse. Mol. Cell. Biol. 18, 6474-6481.
7. Howard, G., Eiges, R., Gaudet, F., Jaenisch, R., and Eden, A. (2008) Activation and transposition of endogenous retroviral elements in hypomethylation induced tumors in mice.Oncogene 27, 404 - 408.
8. Jiao, Y., Li, X., Beamer, W. G., Yan, J., Tong, Y., Goldowitz, D., Roe, B., and Gu, W. (2005a) A deletion causing spontaneous fracture identified from a candidate region of mouse Chromosome 14. Mamm. Genome 16, 20-31.
9. Jiao, Y., Yan, J., Zhao, Y., Donahue, L. R., Beamer, W. G., Li, X., Roe, B. A., Ledoux, M. S., and Gu, W. (2005b) Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Genetics 171, 1239-1246.
10. Kim, J. W., and Dang, C. V. (2005) Multifaceted roles of glycolytic enzymes. Trends Biochem. Sci. 30, 142-150.
11. Lecker, S. H., Jagoe, R. T., Gilbert, A., Gomes, M., Baracos, V., Bailey, J., Price, S. R., Mitch, W. E., and Goldberg, A. L. (2004) Multiple types of skeletal muscle atrophy involve a common program of changes in gene expression. FASEB J. 18, 39-51.
12. Nystuen, A. M., Schwendinger, J. K., Sachs, A. J., Yang, A. W., and Haider, N. B. (2007)A null mutation in VAMP1/synaptobrevin is associated with neurological defects and prewean mortality in the lethal-wasting mouse mutant. Neurogenetics 8, 1-10.
13. Rider, M. H., Bertrand, L., Vertommen, D., Michels, P. A., Rousseau, G. G., and Hue, L. (2004) 6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase: head-to-head with a bifunctional enzyme that controls glycolysis. Biochem. J. 381, 561-579.
14. Saito, E. S., Keng, V. W., Takeda, J., and Horie, K. (2008) Translation from nonautonomous type IAP retrotransposon is a critical determinant of transposition activity: implication for retrotransposon-mediated genome evolution. Genome Res. 18, 859-868.
15. Sun, X. Y., Chen, Z. Y., Hayashi, Y., Kanou, Y., Takagishi, Y., Oda, S., and Murata, Y. (2008) Insertion of an intracisternal A particle retrotransposon element in plasma membrane calcium ATPase 2 gene attenuates its expression and produces an ataxic phenotype in joggle mutant mice. Gene 411, 94-102.
16. Takabatake, T., Ishihara, H., Ohmachi, Y., Tanaka, I., Nakamura, M. M., Fujikawa, K., Hirouchi, T., Kakinuma, S., Shimada, Y., Oghiso, Y., and Tanaka, K. (2008) Microarray-based global mapping of integration sites for the retrotransposon, intracisternal A-particle, in the mouse genome. Nucleic Acids Res. 36, e59.
17. Zhang, Y., Maksakova, I. A., Gagnier, L., van de Lagemaat, L. N., and Mager, D. L. (2008) Genome-wide assessments reveal extremely high levels of polymorphism of two active families of mouse endogenous retroviral elements. PLoS Genet. 4, e1000007.
18. Zhou, W., Bouhassira, E. E., and Tsai, H. M. (2007) An IAP retrotransposon in the mouse ADAMTS13 gene creates ADAMTS13 variant proteins that are less effective in cleaving von Willebrand factor multimers. Blood 110, 886-893.