CHROMOSOMAL LOCATIONS OF 3 HUMAN NUCLEAR GENES (RPSM12, TUFM, AND AFG3L1) SPECIFYING PUTATIVE COMPONENTS OF THE MITOCHONDRIAL GENE-EXPRESSION APPARATUS

We have mapped the chromosomal locations of three human nuclear genes for putative components of the apparatus of mitochondrial gene express ion, using a combination of in situ hybridization and interspecies hyb rid mapping, The genes RPMS12 (mitoribosomal protein S12, a conserved protein component of the mitoribosomal accuracy center), TUFM (mitocho ndrial elongation factor EF-Tu), and AFG3L1 (similar to the yeast gene s Afg3 and Real involved in the turnover of mistranslated or misfolded mtDNA-encoded polypeptides) were initially characterized by a combina tion 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 o n chromosome 16p11.2, with a putative pseudogene or variant (TUFML) lo cated very close to the centromere of chromosome 17. AFG3L1 is located on chromosome 16q24, very close Do the telomere, By virtue of their i nferred functions in mitochondria, these genes should be regarded as c andidates of disorders sharing features with mitochondrial disease syn dromes, such as sensorineural deafness, diabetes, and retinopathy. (C) 1998 Academic Press.