Deletion in the beige gene of the beige rat owing to recombination between LINE1s

Mammalian Genome

Volumn 10, Issue 7, 1999, Pages 692-695

  Mori, Masayuki ^a   Nishikawa, Tetsu ^b   Higuchi, Kei Ichi ^a   Nishimura, Masahiko ^c  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA TOPOISOMERASE;

ARTICLE; CHEDIAK HIGASHI SYNDROME; DNA DETERMINATION; FRAMESHIFT MUTATION; GENE DELETION; GENETIC RECOMBINATION; NONHUMAN; NUCLEOTIDE SEQUENCE; RAT; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHEDIAK-HIGASHI SYNDROME; DNA, COMPLEMENTARY; GENE DELETION; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MOLECULAR SEQUENCE DATA; PROTEINS; RATS; RATS, INBRED STRAINS; RECOMBINATION, GENETIC; SEQUENCE HOMOLOGY, NUCLEIC ACID;

RODENTIA;

EID: 0032815857     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359901072     Document Type: Article

References (37)

1. Bae YS, Kawasaki I, Ikeda H, Liu LF (1988) Illegitimate recombination mediated by calf thymus DNA topoisomerase II in vitro. Proc Natl Acad Sci USA 85, 2076-2080
2. Barbosa MDFS, Nguyen QA, Tchernev VT, Ashley JA, Detter JC et al. (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382, 262-265
3. Barbosa MDFS, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS et al. (1997) Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum Mol Genet 6, 1091-1098
4. Beguez-Cesar AB (1943) Neutropenia cronica maligna familiar congranulaciones atipicas de los leucocitos. Bol Soc Cubana Pediatr 15, 900-922
5. Bodrug SE, Holden JJA, Ray PN, Worton RG (1991) Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy. EMBO J 10, 3931-3939
6. Brandt EJ, Elliot RW, Swank RT (1975) Defective lysosomal enzyme secretion in kidneys of Chediak-Higashi (beige) mice. J Cell Biol 67, 774-788
7. Burkhardt JK, Wiebel FA, Hester S, Argon Y (1993) The giant organelles in Beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes. J Exp Med 178, 1845-1856
8. Chediak M (1952) Nouveile anomalie leukocytaire de caractere constitutionnel et familiel. Rev Hematol 7, 362-367
9. Champoux JJ, Bullock PA (1988) Possible role for the eukaryotic type I topoisomerase in illegitimate recombination. In Genetic Recombination, R Kucherlapati, GR Smith, eds. (Washington, D.C.: American Society for Microbiology), pp 655-666
10. Drechsler M, Royer-Pokora B (1996) A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia. Hum Genet 98, 297-303
11. Higashi O (1954) Congenital gigantism of peroxidase granules. Tohoku J Exp Med 59, 315-332
12. Holcombe RF, Jones KL, Stewart RM (1994) Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines and review of the literature. Immunodeficiency 5, 131-140
13. Hu X, Ray PN, Worton RG (1991) Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. EMBO J 10, 2471-2477
14. Ishih A, Nishikawa T, Nishimura M (1995) Beige (bg) rat: Its usefulness for examining the relation of mastocytocis to worm loss shown in DA strain infected with Hymenoleptis diminuta. Transplant Proc 27, 1546-1547
15. Jaxel C, Capranico G, Kerrigan D, Kohn KW, Pommier Y (1991) Effect of local sequence on topoisomerase I cleavage in the presence or absence of camptothecin. J Biol Chem 266, 20418-20423
16. Jones KL, Stewart RM, Fowler M, Fukuda M, Holcombe RF (1992) Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins. Clin Immunol Immunopathol 65, 219-226
17. Karim MA, Nagle DL, Kandil HH, Burger J, Moore KJ et al. (1997) Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 6, 1087-1089
18. Kvaloy K, Galvagni F, Brown WRA (1994) The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes. Hum Mol Genet 3, 771-778
19. Lutzner MA, Lowrie CT, Jordan HW (1967) Giant granules in leukocytes of the beige mouse. J Hered 58, 299-300
20. Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P et al. (1996) Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 14, 307-311
21. Nishikawa T, Nishimura M (1999) Mapping of the beige (bg) gene on chromosome 17 of the rat. Exp Anim (Tokyo) in press
22. Nishimura M, Inoue M, Nakano T, Nishikawa T, Miyamoto M et al. (1989) Beige rat: a new animal model of Chediak-Higashi syndrome. Blood 74, 270-273
23. Ozaki K, Maeda H, Nishikawa T, Nishimura M, Narama T (1994a) Chediak-Higashi syndrome in rats: light and electron microscopical characterization of abnormal granules in beige rats. J Comp Pathol 110, 369-379
24. Ozaki K, Maeda H, Uechi S, Yamate H, Nishikawa T et al. (1994b) The presence of giant granules in the juxtaglomerular cells of beige rats may affect plasma renin activity and blood pressure. Exp Mol Pathol 61, 221-229
25. Ozaki K, Nishikawa T, Nishimura M, Narama I (1997) Spontaneous skin lesions in beige rats (Chediak-Higashi syndrome of rats). J Vet Med Sci 59, 651-655
26. Penner JD, Prieur DJ (1987) A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashisyndrome. Am J Med Genet 28, 445-454
27. Perou CM, Moore KJ, Nagle DL, Misumi DJ, Woolf EA et al. (1996) Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet 13, 303-308
28. Perou CM, Leslie JD, Green W, Li L, Ward MD et al. (1997a) The beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein. J Biol Chem 272, 29790-29794
29. Perou CM, Pryor RJ, Naas TP, Kaplan J (1997b) The beige allele mutation is due to a LINEI element retrotransposition. Genomics 42, 366-368
30. Shapiro LJ, Yen P, Pomeranz D, Martin E, Rolewic L et al. (1989) Molecular studies at the human steroid sulfatase locus. Proc Natl Acad Sci USA 86, 8477-8481
31. Steinbrinck W (1948) Über cine neue Granulationsanomalie der Leukocyten. Dtsch Arch Klin Med 193, 577-581
32. Swank RT, Brandt EJ (1978) Turnover of kidney β-glucuronidase in normal and Chediak-Higashi (beige) mice. Am J Pathol 92, 755-771
33. Toriello HV, Glover TW, Takahara K, Byers PH, Miller DE et al. (1996) A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nat Genet 13, 361-365
34. Ueki Y, Naito I, Oohashi T, Sugimoto M, Seki T (1998) Topoisomerase I and II consensus sequences in a 17-kh deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome. Am J Hum Genet 62, 253-261
35. van Bakel I, Holt S, Craig I, Boyd Y (1995) Sequence analysis of the breakpoint region of an X;5 translocation in a female with Duchenne muscular dystrophy. Am J Hum Genet 57, 329-336
36. Willingham MC, Spicer SS, Vincent RA Jr (1981) The origin and fate of large dense bodies in beige mouse fibroblast. Exp Cell Res 136, 157-168
37. Zhao H, Boissy YL, Abdel-Malek Z, King RA, Nordlund JJ et al. (1994) On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes. Lab Invest 71, 25-34