Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus

Genomics
Z H ShahH T Jacobs

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 of in situ hybridization and interspecies hybrid mapping. The genes RPMS12 (mitoribosomal protein S12, a conserved protein component of the mitoribosomal accuracy center), TUFM (mitochondrial elongation factor EF-Tu), and AFG3L1 (similar to the yeast genes Afg3 and Rca1 involved 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. RPMS12 maps to chromosome 19q13.1, close to the previously mapped gene for autosomal dominant hearing loss DFNA4. The TUFM gene is located on chromosome 16p11.2, with a putative pseudogene or variant (TUFML) located very close to the centromere of chromosome 17. AFG3L1 is 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.

References

Dec 1, 1986·Human Genetics·J C Mulley, D F Callen
Jun 1, 1995·Human Molecular Genetics·A H ChenR J Smith
Oct 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·L E AlksneJ R Warner
Mar 1, 1996·Human Molecular Genetics·G GyapayP N Goodfellow
Nov 1, 1996·Current Genetics·M Rep, L A Grivell
Jan 1, 1997·Annual Review of Biochemistry·W Neupert
Jan 20, 1998·Gene·Z H ShahH T Jacobs

❮ Previous
Next ❯

Citations

Jul 15, 2000·Journal of Neurology, Neurosurgery, and Psychiatry·C McDermottP Shaw
Sep 21, 2000·FEBS Letters·M K JuholaH T Jacobs
Apr 15, 2000·The Journal of Biological Chemistry·T YokogawaK Watanabe
Dec 22, 1999·Biochemical and Biophysical Research Communications·Y KagawaH Endo

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.