PMID- 10077726
OWN - NLM
STAT- MEDLINE
DCOM- 19990521
LR  - 20181116
IS  - 0001-5652 (Print)
IS  - 0001-5652 (Linking)
VI  - 49
IP  - 2
DP  - 1999 Mar
TI  - Human NDUFB9 gene: genomic organization and a possible candidate gene associated 
      with deafness disorder mapped to chromosome 8q13.
PG  - 75-80
AB  - Human NADH dehydrogenase (ubiquinone) 1beta-subcomplex, 9 (NDUFB9) is a nuclear
      encoded mitochondrial protein with the respiratory electron transport chain. It
      has been physically mapped to a 1-Mb deletion at chromosome 8q13 which also
      contains the gene for branchio-oto-renal (BOR) syndrome. BOR syndrome is
      characterized by branchial and renal abnormalities with hearing impairment. Since
      several hereditary deafness disorders have been associated with mitochondrial
      mutations, NDUFB9 was considered a candidate gene for BOR syndrome. Recently,
      EYA1 gene has been identified in the region which underlies the BOR syndrome but 
      majority of BOR families did not show mutations in the EYA1 gene. Here we have
      determined the genomic structure of the NDUFB9 gene, including the nucleotide
      sequence, organization and the boundaries of the four coding exons. PCR primers
      were designed from the adjacent intron sequences that allow amplification of the 
      four exons that encode the complete open reading frame. To identify whether
      mutations in NDUFB9 are involved in causing the BOR syndrome, we screened 9 BOR
      families which did not show mutations in the EYA1 gene by heteroduplex analysis; 
      however, no mutations were found.
FAU - Lin, X
AU  - Lin X
AD  - Department of Biology and Institute of Molecular Biology, University of Houston, 
      Houston, Tex., USA.
FAU - Wells, D E
AU  - Wells DE
FAU - Kimberling, W J
AU  - Kimberling WJ
FAU - Kumar, S
AU  - Kumar S
LA  - eng
GR  - P01 DC01813/DC/NIDCD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Switzerland
TA  - Hum Hered
JT  - Human heredity
JID - 0200525
RN  - 0 (DNA Primers)
RN  - 0 (Mitochondrial Proteins)
RN  - 0 (Proteins)
RN  - EC 1.6.99.3 (NADH Dehydrogenase)
RN  - EC 7.1.1.2 (NDUFB9 protein, human)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Branchio-Oto-Renal Syndrome/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - DNA Primers
MH  - Electrophoresis, Polyacrylamide Gel
MH  - Exons
MH  - Heteroduplex Analysis
MH  - Humans
MH  - Introns
MH  - *Mitochondrial Proteins
MH  - Molecular Sequence Data
MH  - NADH Dehydrogenase/*genetics
MH  - Proteins/*genetics
MH  - Temperature
MH  - Tissue Distribution
EDAT- 1999/03/17 03:04
MHDA- 2000/08/16 11:00
CRDT- 1999/03/17 03:04
PHST- 1999/03/17 03:04 [pubmed]
PHST- 2000/08/16 11:00 [medline]
PHST- 1999/03/17 03:04 [entrez]
AID - 22848 [pii]
AID - 10.1159/000022848 [doi]
PST - ppublish
SO  - Hum Hered. 1999 Mar;49(2):75-80. doi: 10.1159/000022848.