Definition of the locus responsible for systemic carnitine deficiency within a 1.6-cM region of mouse chromosome 11 by detailed linkage analysis

Genomics

Volumn 33, Issue 2, 1996, Pages 289-291

  Okita, Kohei ^a,b   Tokino, Takashi ^a   Nishimori, Hiroyuki ^a   Miura, Koh ^a   Nikaido, Hiroko ^c   Hayakawa, Jun Ichiro ^c   Ono, Akira ^b   Kuwajima, Masamichi ^b   Matsuzawa, Yuji ^b   Nakamura, Yusuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^c KANAZAWA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARNITINE DEFICIENCY; CHROMOSOME 11; CHROMOSOME MAP; GENE LOCUS; GENETIC DISTANCE; GENETIC LINKAGE; MOLECULAR CLONING; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROGENY; STEATOSIS;

EID: 17544385239     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0194     Document Type: Article

References (21)

1. Angelini, C. (1990). Defects of fatty-acid oxidation in muscle. Baillière's Clin. Endocrinol. Metab. 4: 561-580.
2. Angelini, C., Trevisan, C., Isaya, G., Pegoro, G., and Vergani, L. (1987). Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency. Clin. Biochem. 20: 1-7.
3. Chu, G., Vollrath, D., and Davis, R. W. (1986). Separation of large DNA molecules by contour-clamped homogeneous electric fields. Science 234: 1582-1585.
4. Coates, P. M., Hale, D. E., Stanley, C. A., and Glasgow, A. M. (1984). Systemic carnitine deficiency simulating Reye syndrome. J. Pediatr. 105: 679.
5. Engel, A. G., and Angelini, C. (1973). Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: A new syndrome. Science 179: 899-902.
6. Hale, D. E., Cruse, R. P., and Engel, A. G. (1985). Familial systemic carnitine deficiency. Arch. Neurol. 42: 1133.
7. Hayakawa, J., Koizumi, T., and Nikaido, H. (1990). Inheritance of Juvenile Steatosis Viscera (jsv) found in C3H-H-2°. Mouse Genome 86: 261.
8. Horiuchi, M., Kobayashi, K., Yamaguchi, S., Shimizu, N., Koizumi, T., Nikaido, H., Hayakawa, J., Kuwajima, M., and Saeki, T. (1994). Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system. Biochem. Biophys. Acta 1226: 25-30.
9. Karpati, G., Carpentier, S., Engel, A. G., Watters, G., Allen, J., Rothmans, S., Klassen, G., and Marner, O. A. (1975). The syndrome of systemic carnitine deficiency. Clinical, morphological, biochemical and pathophysiologic features. Neurology 25: 16-24.
10. Koizumi, T., Nikaido, H., Hayakawa, J., Nonomura, A., and Yoneda, T. (1988). Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-2° strain of mouse with similarities to Reye's syndrome. Lab. Anim. 22: 83-87.
11. Kuwajima, M., Kono, N., Horiuchi, M., Imamura, Y., Ono, A., Inui, Y., Kawata, S., Koizumi, T., Hayakawa, J., Saeki, T., and Tarai, S. (1991). Animal model of systemic carnitine deficiency: Analysis in C3H-H-2° strain of mouse associated with juvenile visceral steatosis. Biochem. Biophys. Res. Commun. 174:1090-1094.
12. McGarry, J. D., and Foster, D. W. (1980). Systemic carnitine deficiency. N. Engl. J. Med. 303: 1413.
13. Nikaido, H., Horiuchi, M., Hashimoto, N., Saheki, T., and Hayakawa, J. (1995). Mapping of jvs (juvenile visceral steatosis) gene, which causes systemic carnitine deficiency in mice, on chromosome 11. Mamm. Genome 6: 369-370.
14. Pande, S. V. (1975). A mitochondrial carnitine acylcarnitine translocase system. Proc. Natl. Acad. Sci. USA 72: 883-887.
15. Sato, T., Tanigami, A., Yamakawa, K., Akiyama, F., Kasumi, F., Sakamoto, G., and Nakamura, Y. (1990). Allelotype of breast cancer: Cumulative allelic losses promote tumor progression in primary breast cancer. Cancer Res. 50: 7184-7189.
16. Scholte, H. R., Pereira, R. R., Jonge, P. C., Luyt-Houwen, I. E. M., Verduin, M. H. M., and Ross, J. D. (1990). Primary carnitine deficiency. J. Clin. Chem. Clin. Biochem. 28: 351-357.
17. Schwartz, D. C., and Cantor, C. R. (1984). Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis. Cell 3: 67-75.
18. Stanley, C. A., DeLeeuw, S., Coates, P. M., Vianey-Liaud, C., Divry, P., Bonnefont, J.-P., Saudubray, J.-M., Raymond, M., Trefz, F. K., Breningstall, G. N., Wappner, R. S., Byrd, D. J., Sansaricq, C., Tein, I., Grover, W., Valle, D., Rutledge, L., and Treem, W. R. (1991). Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann. Neurol. 30: 709-716.
19. Tripp, M. E., Katchen, M. L., Peters, H. A., Gilbert, E. F., Arya, S., Hodach, R. J., and Shlug, A. L. (1981). Systemic carnitine deficiency presenting as familial endocardial fibroelastosis. A treatable cardiomyopathy. N. Engl. J. Med. 305: 385-390.
20. Waber, L. J., Valle, D., Neill, C., DiMauro, S., and Shug, A. (1982). Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport. J. Pediatr. 101: 700-705.
21. Zierz, S., Engel, A. G., and Romshe, C. A. (1986). Assay of acylCoA dehydrogenases in muscle and liver and identification of four new cases of medium-chain acyl-CoA dehydrogenase deficiency associated with systemic carnitine deficiency. Muscle Nerve 9: 193.