Chromosomal Locations of Three Human Nuclear Genes (RPSM12, TUFM, and AFG3L1) Specifying Putative Components of the Mitochondrial Gene Expression Apparatus |
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| Authors: | Zahid H. Shah Vanessa Migliosi Steven C.M. Miller Aihui Wang Thomas B. Friedman Howard T. Jacobs |
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| Affiliation: | aInstitute of Medical Technology, University of Tampere, P.O. Box 607, 33101, Tampere, Finland;bInstitute of Biomedical and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, Scotland, United Kingdom;cLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, 5 Research Court 2A-O1, Rockville, Maryland, 20850 |
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| Abstract: | We have mapped the chromosomal locations of three human nuclear genes for putative components of the apparatus of mitochondrial gene expression, using a combination ofin situhybridization and interspecies hybrid mapping. The genesRPMS12(mitoribosomal protein S12, a conserved protein component of the mitoribosomal accuracy center),TUFM(mitochondrial elongation factor EF-Tu), andAFG3L1(similar to the yeast genesAfg3andRca1involved in the turnover of mistranslated or misfolded mtDNA-encoded polypeptides) were initially characterized by a combination of database sequence analysis, PCR, cloning, and DNA sequencing.RPMS12maps to chromosome 19q13.1, close to the previously mapped gene for autosomal dominant hearing loss DFNA4. TheTUFMgene is located on chromosome 16p11.2, with a putative pseudogene or variant (TUFML) located very close to the centromere of chromosome 17.AFG3L1is located on chromosome 16q24, very close to the telomere. By virtue of their inferred functions in mitochondria, these genes should be regarded as candidates of disorders sharing features with mitochondrial disease syndromes, such as sensorineural deafness, diabetes, and retinopathy. |
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