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Title: 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 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.
Authors:
; ;  [1]
  1. Univ. of Houston, TX (United States)
Publication Date:
OSTI Identifier:
466012
Resource Type:
Journal Article
Resource Relation:
Journal Name: Genomics; Journal Volume: 35; Journal Issue: 1; Other Information: PBD: 1 Jul 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 8; GENETIC MAPPING; CHROMOSOMAL ABERRATIONS; PATIENTS; HEREDITARY DISEASES; SENSE ORGANS DISEASES; OXIDOREDUCTASES; DNA-CLONING; DNA SEQUENCING; GENE REGULATION; GENE MUTATIONS; MITOCHONDRIA; BIOLOGICAL MARKERS; DOMINANT MUTATIONS; NUCLEOTIDES; UBIQUINONE; COENZYMES; CONTIGS; COSMIDS; HYBRIDIZATION; PROTEINS; POLYMERASE CHAIN REACTION