Homozygosity Mapping of the Werner Syndrome Locus (WRN)

Genomics

Volumn 23, Issue 3, 1994, Pages 600-608

  Nakura, Jun ^a   Wijsman, Ellen M ^b   Miki, Tetsuro ^a   Kamino, Kouzin ^a   Yu, Chang En ^b   Oshima, Junko ^b   Fukuchi, Ken ichiro ^b   Weber, James L ^c   Piussan, Charles ^d   Melaragno, Maria I ^e   Epstein, Charles J ^f   Scappaticci, S ^g   Fraccaro, Marco ^g   Matsumura, Toshiharu ^h   Murano, Shunichi ⁱ   Yoshida, Sho ⁱ   Fujiwara, Yoshisada ^j   Saida, Toshiaki ^k   Ogihara, Toshio ^a   Martin, George M ^b   Schellenberg, Gerard D ^a,b   more..

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b UNIVERSITY OF WASHINGTON   (United States)

^c MARSHFIELD CLINIC   (United States)

^d UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

^e Pauiist School of Medicine ^*  (Brazil)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF PAVIA   (Italy)

^h Meiji Cell Technology Center   (Japan)

ⁱ CHIBA UNIVERSITY   (Japan)

^j KOBE UNIVERSITY   (Japan)

^k SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 8P; CHROMOSOME MAP; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; GENE FREQUENCY; GENE LOCUS; GENETIC LINKAGE; GENOTYPE; HUMAN; PRIORITY JOURNAL; WERNER SYNDROME;

ALLELES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; ETHNIC GROUPS; GENETIC MARKERS; HOMOZYGOTE; HUMAN; LINKAGE (GENETICS); LOD SCORE; PEDIGREE; POLYMORPHISM (GENETICS); REGISTRIES; REPETITIVE SEQUENCES, NUCLEIC ACID; SOFTWARE; SUPPORT, U.S. GOV'T, P.H.S.; WERNER SYNDROME;

EID: 0028079995     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1006/geno.1994.1548     Document Type: Article

References (32)

1. Curtis, D., and Gurling, H. (1993). A procedure for combining two-point lod scores into a summary multipoint map. Hum. Hered. 43: 173-185.
2. Epstein, C. J., Martin, G. M., Schultz, A. L., and Motulsky, A. G. (1966). Werner’s syndrome: A review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine 45: 177-221.
3. Fukuchi, K., Tanaka, K., Nakura, J., Kumahara, Y., Uchida, T., and Okada, Y. (1985). Elevated spontaneous mutation rate in SV 40-transformed Werner syndrome fibroblast cell lines. Somatic Cell Mol. Genet. 11: 303-308.
4. Fukuchi, K., Martin, G. M., and Monnat, R. J. (1989). Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc. Natl. Acad. Sci. USA 86: 5893-5897.
5. Fukuchi, K., Tanaka, K., Kumahara, Y., Mar amo, K., Pride, M., Mar-tin, G. M., and Monnet, R. J. (1990). Increased frequency of 6-thioguanine-resistant peripheral blood lymphocytes in Werner syndrome patients. Hum. Genet. 84: 249-252.
6. Goto, M., Rubenstein, M., Weber, J., Woods, K, and Drayna, D. (1992). Genetic linkage of Werner’s syndrome to five markers on chromosome 8. Nature 355: 735-738.
7. Johnson, J. P., Nishina, P. M., and Naggert, J. K (1990). PCR assay for a polymorphic PvuW site in the LPL gene. Nucleic Acids Res. 18: 746.
8. Kakigi, R., Endo, C., Neshige, R., Kohno, H., and Kuroda, Y. (1992). Accelerated aging in the brain in Werner’s syndrome. Neurology 42: 922-924.
9. Kieras, F. J., BTOVÌH, W. T., Houck, G. E., and Zebrower, M. (1986), Elevation of hyaluronic acid in Werner’s syndrome and progeria. Biochem. Med. Metab. Biol. 36: 276-282.
10. Lander, E. S., and Botstein, D. (1987). Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science 236: 1567-1570.
11. Lathrop, G. M., Lalouel, J. M., Julier, C., and Ott, J. (1984). Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81: 3443-3446.
12. Martin, G. M., Sprague, C. A., and Epstein, C. J. (1970). Replicative life-span of cultivated human cells. Lab. Invest. 23: 86-92.
13. NIH/CEPH Collaborative Mapping Group (1992). A comprehensive genetic linkage map of the human genome. Science 258: 67-86, 148-162.
14. Oshima, J., Yu, C.-E., Boehnke, M., Weber, J. L., Edelhoff, S., Wagner, M. J., Wells, D. E., Wood, S., Disteche, C. M., Martin, G. M., and Schellenberg, G. D. (1994). Integrated mapping analysis of the Werner syndrome region of chromosome 8. Genomics 23: 100-113.
15. Ott, J. (1974). Estimation of the recombination fraction in human pedigrees: Efficient computation of likelihood for human linkage studies. Am. J. Hum. Genet. 26: 588-597.
16. Ott, J. (1976). A computer program for linkage analysis of general human pedigrees. Am. J. Hum. Genet. 28: 528-529.
17. Salk, D., Au, K., Hoehn, H., and Martin, G. M. (1981). Cytogenetics of Werner’s syndrome cultured skin fibroblasts: Variegated translocation mosaicism. Cytogenet. Cell Genet. 30: 92-107.
18. Scappaticci, S., Cerimele, D., and Graccaro, M. (1982). Clonal structural chromosomal rearrangements in primary fibroblast cultures and in lymphocytes of patients with Werner’s syndrome. Hum. Genet. 62: 16-24.
19. Schellenberg, G. D., Martin, G. M., Wijsman, E. M., Nakura, J., Miki, T., and Ogihara, T. (1992). Homozygosity mapping and Werner’s syndrome. Lancet 339: 1002.
20. Schellenberg, G. D., Bird, T. D., Wijsman, E. M., Orr, H. T., Anderson, L., Nemens, E., White, J. A., Bonnycastle, L., Weber, J. L., Alonso, M. E., Potter, H., Heston, L. L., and Martin, G. M. (1993). Genetic linkage evidence for a familial Alzheimer’s disease locus on chromosome 14. Science 258: 668-671.
21. Smith, C. A. B. (1953). Detection of linkage in human genetics. J. R. Stat. Soc. B 15: 153-192.
22. Sumi, S. M. (1985). Neuropathology of the Werner syndrome. Adv. Exp. Med. Biol. 190: 215-217.
23. Thomas, W., Rubenstein, M., Goto, N., and Drayna, D. (1993). A genetic analysis of the Werner syndrome region of chromosome 8p. Genomics 16: 685-690.
24. Thomas, W., and Drayna, D. (1993). A polymorphic dinucleotide repeat at the D8S339 locus. Hum. Mol. Genet. 2: 828.
25. Tollefsbol, T. O., and Cohen, H. J. (1984). Werner’s syndrome: An underdiagnosed disorder resembling premature aging. Age 7: 75-88.
26. Tomfohrde, J., Wood, S., Schertzer, M., Wagner, M. J., Wells, D. E., Parrish, J., Sadler, L. A., Blanton, S. H., Daiger, S. P., Wang, Z., Wilke, P. J., and Weber, J. L. (1992). Human chromosome 8 linkage map based on short tandem repeat polymorphisms: Effect of geno-typing errors. Genomics 14: 144-152.
27. Umehara, F., Abe, M., Nakagawa, M., Izumo, S., Arimura, K., Matsu-muro, K., and Osarne, M. (1993). Werner’s syndrome associated with spastic paraparesis and peripheral neuropathy. Neurology 43: 1252-1254.
28. Weber, J. L., and Wong, C. (1993). Mutation of human short tandem repeats. Hum. Mol. Genet. 2: 1123-1128.
29. Yu, C. E., Anderson, L., Oshima, J., and Schellenberg, G. D. (1994a). Dinucleotide repeat polymorphism in a cosmid containing the fibroblast growth factor receptor 1 (FGFR1) gene. Hum. Mol. Genet. 3: 212.
30. Yu, C. E., Anderson, L., Oshima, J., and Schellenberg, G. D. (1994b). Dinucleotide repeat polymorphism in a cosmid containing the D8S131 locus. Hum. Mol. Genet. 3: 211.
31. Yu, C. E., Oshima, J., Goddard, K. A. B., Miki, T., Nakura, J., Ogihara, T., Fraccaro, M., Piussan, C., Martin, G. M., Schellenberg, G. D., and Wijsman, E. M. (1994c). Linkage disequilibrium and haplotype studies of chromosome 8pll.l-21.1 markers and Werner’s syndrome. Am. J. Hum. Genet. 55: 356-364.
32. Zuliani, G., and Hobbs, H. H. (1990). Tetranucleotide repeat polymorphism in the LPL gene. Nucleic Acids Res. 18: 4958.