The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome.
To identify candidate genes for Branchio-oto-renal (BOR) syndrome, we have made use of a set of cosmids that map to 8q13.3, which has previously been shown to be involved in this syndrome. These cosmids were used as genomic clones in the attempts to isolate corresponding cDNAs using a modified hybrid selection technique. cDNAs from the region were identified and used to search for sequence similarity in human or other species. One cDNA clone was found to have 89% sequence similarity to the bovine B22 subunit of NADH-ubiquinone oxidoreductase, a mitochondrial protein in the respiratory electron transport chain. Given the history of other mitochondrial mutations being involved in hearing loss syndromes, this gene should be considered a strong candidate for involvement in BOR.
Gu
J Z
JZ
Department of Biology, University of Houston, Houston, Texas, 77204, USA.
Lin
X
X
Wells
D E
DE
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001934:Branchial Region / Q000002:abnormalities; D002417:Cattle; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003360:Cosmids / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D003638:Deafness / Q000235:genetics; D004579:Electron Transport / Q000235:genetics; D042967:Electron Transport Complex I; D005796:Genes; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008928:Mitochondria / Q000201:enzymology; D008969:Molecular Sequence Data; D009247:NADH, NADPH Oxidoreductases / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D017385:Sequence Homology; D013577:Syndrome
D018076:DNA, Complementary; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I