The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome

Genomics

Volumn 35, Issue 1, 1996, Pages 6-10

  Gu, Jessie Z ^a   Lin, Xin ^a   Wells, Dan E ^a  

^a University of Houston   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; CHROMOSOME 8Q; CLINICAL FEATURE; COSMID; DNA SEQUENCE; ELECTRON TRANSPORT; GENE LOCATION; GENETIC ANALYSIS; HEARING LOSS; HUMAN; KIDNEY MALFORMATION; MITOCHONDRIAL RESPIRATION; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SYNDROME DELINEATION;

BOVINAE;

EID: 0030200921     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0316     Document Type: Article

References (28)

1. Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coalson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. D., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., and Young, I. G. (1981). Sequence and organization of the human mitochondrial genome. Nature 90: 457-465.
2. Ballinger, S. W., Shoffner, J. M., Hedaya, E. V., Trounce, I., Polak, M. A., Koontz, D. A., and Wallace, D. C. (1992). Maternally transmitted diabetes and deafness associated with a 10.4 Kb mitochondrial DNA deletion. Nature Genet. 1: 11-15.
3. Bundey, S., Poulton, K., Whitwell, H., Curtis, E., Brown, I. A. R., and Fielder, A. R. (1992). Mitochondrial abnormalities in the DID-MOAD syndrome. J. Inherit. Metab. Dis. 15: 315-319.
4. Chomyn, A., Mariottini, P., Cleeter, M. W. J., Ragan, C. I., Matsuno-Yagi, A., Hatefi, Y., Doolittle, R. F., and Attardi, G. (1985). Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. Nature 314: 592-597.
5. Chomyn, A., Cleeter, M. W. J., Ragan, C. I., Riley, M., Doolittle, R. F., and Attardi, G. (1986). URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit. Science 234: 614-618.
6. Fraser, F. C., Ling, D., Clogg, D., and Nogrady, B. (1978). Genetic aspects of the BOR syndrome - Branchial fistulas, ear pits, hearing loss, and renal anomalies. Am. J. Med.Genet. 2: 241-252.
7. Gu, J. Z., Wagner, M. J., Haan, E. A., and Wells, D. E. (1996). Detection of a megabase-deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS); Implications for mapping and cloning the BOR gene. Genomics,in press.
8. Guo, W., Worley, K., Adams, V., Mason, J., Sylvester-Jackson, D., Zhang, Y-H., Towbin, J. A., Fogt, D. D., Madu, S., Wheeler, D. A., and McCabe, E. R. B. (1993). Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nature Genet. 4: 367-372.
9. Haan, E. A., Hull, Y. J., White, S., Cockington, R., Charlton, P., and Callen, D. F. (1989). Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. Am. J. Med. Genet. 32: 490-494.
10. Hutchin, T. P., Stoneking, M., Qiu, W. Q., Fischel-Ghodsian, N., and Cortopassi, G. (1993). Association of a particular point mutation of the mitochondrial DNA with aminoglycoside-induced deafness. Am. J. Hum. Genet. 53(Suppl.): A20.
11. Jaber, L., Shohat, M., Bu, X., Fischel-Ghodsian, N., Yang, H.-Y., Wang, S.-J., and Rotter, J. I. (1992). Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J. Med. Genet. 29: 86-90.
12. Kumar, S., Kimberling, W. J., Kenyon, J. B., Smith, R. J. H., Marres, H. A. M., and Cremers, C. W. R. J. (1992). Autosomal dominant branchio-oto-renal syndrome - Localization of a disease gene to chromosome 8q by linkage in a Dutch family. Hum. Mol. Genet. 1: 491-495.
13. Kumar, S., Kimberling, W. J., Connolly, C. J., Tinley, S., Marres, H. A. M., and Cremers, C. W. R. J. (1994). Refining the region of Branchio-Oto-Renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping. Am. J. Hum. Genet. 55: 1188-1194.
14. Kumar, S., Kimberling, W. J., Sumegi, J., Marres, H. A. M., and Cremers, C. W. R. J. (1995). Progress toward the genetic and physical mapping of BOR on hromosome 8q. Am. J. Hum. Genet. 57: A262.
15. Lovett, M., Kere, J., and Hinton, L. M. (1991). Direct selection: A method for the isolation of cDNAs encoded by large genomic regions. Proc. Natl. Acad. Sci. USA 88: 9628-9632.
16. Lovett, M. (1994). Fishing for complements: Finding genes by direct selection. Trends Genet. 10: 352-357.
17. Melnick, M., Bixler, D., Nance, W. E., Silk, Y., and Yune, H. (1976). Familial branchio-oto-renal dysplasia: A new addition to the branchio arch syndromes. Clin. Genet. 9: 25-34.
18. Melnick, M., Hodes, M. E., Nance, W. E., Yune, H., and Sweeney, A. (1978). Branchio-oto-renal dysplasia and branchio-oto dysplasia: Two distinct autosomal dominant disorders. Clin. Genet. 13: 425-442.
19. Ni, L., Wagner, M. J., Kimberling, W. J., Pembrey, M. E., Grundfast, K. M., Kumar, S., Daiger, S. P., Wells, D. E., Johnson, K., and Smith, R. J. H. (1994). Refined localization of the Branchio-Oto-Renal syndrome gene by linkage and haplotype analysis. Am. J. Med. Genet. 51: 176-184.
20. Pilz, D.; Quarrell, O. W. J., and Jones, E. W. (1994). Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DID-MOAD). J. Med. Genet. 31: 328-330.
21. Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W.-Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M., and Fischel-Ghodsian, N. (1993). Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness. Nature Genet. 4: 289-294.
22. Ragan, C. I. (1987). Structure of NADH-ubiquinone reductase (complex I). Curr. Top. Bioenerget. 15: 1-36.
23. Rotig, A., Cormier, V., Chatelain, P., Francois, R., Saudubray, J.-M., Rustin, P., and Munnich, A. (1993). Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J. Clin. Invest. 91: 1095-1098.
24. Smith, R. J. H., Ankerstjerne, J. K. E., Capper, D. T., Coppage, K. B., Comeau, K., Kenyon, J., Kimberling, W. J., Kumar, S., Tinley, S. (1992). Localization of the gene for branchio-oto-renal syndrome to chromosome 8q. Genomics 14: 843-844.
25. Sproule, J. R., Hatal, F., and Fraser, F. C. (1980). Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am. J. Med. Genet. 7: 341-349.
26. Vincent, C., Kalatzis, V., Compain, S., Levilliers, J., Slim, R., Graia, F., Pereira, M. L., Nivelon, A., Croquette, M. F., Lacombe, D., Vigneron, J., Helias, J., Broyer, M., Callen, D. F., Haan, E. A., Weissenbach, J., Lacroix, B., Chantelot, C. B., Paslier, D. L., Cohen, D., and Petit, C. (1994). A proposed new contigious gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. Hum. Mol. Genet. 3: 1859-1866.
27. Walker, J. E., Arizmendi, J. M., Dupuis, A., Fearnley, I. M., Finel, M., Medd, S. M., Pilkington, S. J., Runswick, M. J., and Skehel, J. M. (1992). Sequences of 20 subunits of NADH:ubiquinone oxido-reductase from bovine heart mitochondria: Application of a novel strategy for sequencing proteins using the polymerase chain reaction. J. Mol. Biol. 226: 1051-1072.
28. Weiss, H., Friedrich, T., Hofhaus, G., and Preis, D. (1991). The respiratory chain NADH dehydrogenase (complex I) of mitochondria. Eur. J. Biochem. 196: 563-576.