THE HUMAN B22 SUBUNIT OF THE NADH-UBIQUINONE OXIDOREDUCTASE MAPS TO THE REGION OF CHROMOSOME-8 INVOLVED IN BRANCHIOOTORENAL 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 previo usly been shown to be involved in this syndrome. These cosmids were us ed as genomic clones in the attempts to isolate corresponding cDNAs us ing a modified hybrid selection technique. cDNAs from the region were identified and used to search for sequence similarity in human or othe r species. One cDNA clone was found to have 89% sequence similarity to the bovine B22 subunit of NADH-ubiquinone oxidoreductase, a mitochond rial protein in the respiratory electron transport chain. Given the hi story of other mitochondrial mutations being involved in hearing loss syndromes, this gene should be considered a strong candidate for invol vement in BOR. (C) 1996 Academic Press, Inc.