Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13
| Autor: | Dan E. Wells, Xin Lin, William J. Kimberling, Shrawan Kumar |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Candidate gene
Molecular Sequence Data Heteroduplex Analysis Biology Respiratory electron transport chain Mitochondrial Proteins Exon Gene mapping Genetics medicine Humans Tissue Distribution Amino Acid Sequence Gene Genetics (clinical) HSPA9 DNA Primers Branchio-oto-renal syndrome Base Sequence Temperature Proteins NADH Dehydrogenase Exons medicine.disease NDUFB9 Introns Electrophoresis Polyacrylamide Gel Branchio-Oto-Renal Syndrome Chromosomes Human Pair 8 |
| Zdroj: | Human heredity. 49(2) |
| ISSN: | 0001-5652 |
| Popis: | Human NADH dehydrogenase (ubiquinone) 1β-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. |
| Databáze: | OpenAIRE |
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