Dahl H H, Brown R M, Hutchison W M, Maragos C, Brown G K
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Australia.
Genomics. 1990 Oct;8(2):225-32. doi: 10.1016/0888-7543(90)90275-y.
The pyruvate dehydrogenase (PDH) complex converts pyruvate to acetyl CoA, an essential step in aerobic glucose metabolism. We have previously shown that the gene for the E1 alpha subunit of this complex, expressed in somatic tissues, is located on band p22.1 of the human X chromosome. This gene, PDHA1, contains 10 introns and spans approximately 17 kb. An autosomal locus, PDHA2, showing significant cross-hybridization with a PDH E1 alpha cDNA probe, was detected on chromosome 4, in the region q22-q23. We here report the isolation of human testis-specific PDH E1 alpha cDNA clones. The similarity with the X chromosome-linked cDNA coding sequence at the nucleotide level is 84%. Specific amplification using the polymerase chain reaction confirmed the presence of a testis-specific mRNA and indicated that postmeiotic spermatogenic cells express this subunit. In situ hybridization with a unique probe from the 3' untranslated region of the testis-specific cDNA showed that the gene for this form of PDH E1 alpha is localized on chromosome 4 in the region q22-q23. The autosomal human gene was isolated from a chromosome 4-specific genomic library. The transcribed region of this gene is identical to the testis-specific cDNA sequence. It completely lacks introns and possesses characteristics of a functional processed gene.
丙酮酸脱氢酶（PDH）复合体将丙酮酸转化为乙酰辅酶A，这是有氧葡萄糖代谢中的关键步骤。我们之前已经表明，该复合体E1α亚基的基因在体细胞组织中表达，位于人类X染色体的p22.1带。这个基因，即PDHA1，包含10个内含子，跨度约为17kb。在4号染色体q22-q23区域检测到一个常染色体位点PDHA2，它与PDH E1α cDNA探针有显著的交叉杂交。我们在此报告人类睾丸特异性PDH E1α cDNA克隆的分离。在核苷酸水平上，它与X染色体连锁的cDNA编码序列的相似性为84%。使用聚合酶链反应进行的特异性扩增证实了睾丸特异性mRNA的存在，并表明减数分裂后的生精细胞表达该亚基。用来自睾丸特异性cDNA 3'非翻译区的独特探针进行原位杂交表明，这种形式的PDH E1α基因定位于4号染色体的q22-q23区域。该常染色体人类基因是从4号染色体特异性基因组文库中分离出来的。这个基因的转录区域与睾丸特异性cDNA序列相同。它完全没有内含子，具有功能性加工基因的特征。
