Genomic organization of the human complex I 13-kDa subunit gene NDUFA5

Authors
Tensing, K Pata, I Wittig, I Wehnert, M Metspalu, A
Citation
K. Tensing et al., Genomic organization of the human complex I 13-kDa subunit gene NDUFA5, CYTOG C GEN, 84(1-2), 1999, pp. 125-127
Citations number
12
Categorie Soggetti
Molecular Biology & Genetics
Journal title
CYTOGENETICS AND CELL GENETICS
ISSN journal
03010171 → ACNP
Volume
84
Issue
1-2
Year of publication
1999
Pages
125 - 127
Database
ISI
SICI code
0301-0171(1999)84:1-2<125:GOOTHC>2.0.ZU;2-7
Abstract
We have characterized the human gene NDUFAS encoding a 13-kDa subunit of th e mitochondrial respiratory chain complex I (NADH: ubiquinone oxidoreductas e). The gene contains 5 exons and 4 introns, and spans 14 kb of genomic DNA . In the untranscribed region we observed potential transcription factor bi nding sites. We determined a single nucleotide variant (C/T) at -318, and i ts frequency in the German population. The functional gene was localised by FISH to 7q31 and by radiation hybrid panel near marker D7S648 in YAC 883_a _2.