Parimoo B, Tanaka K
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510.
Genomics. 1993 Mar;15(3):582-90. doi: 10.1006/geno.1993.1111.
Isovaleryl-CoA dehydrogenase (IVD) catalyzes the third step in leucine catabolism. The genetic deficiency of IVD causes isovaleric acidemia. The functional IVD gene spans approximately 15 kb and consists of 12 exons and 11 introns, with the exon size ranging from 52 to 728 bp. The poly(A) addition site begins 21 nucleotides downstream of this signal. The 5'-flanking region contained typical promoter elements such as TATA and CAT boxes in addition to other putative regulatory sequences. The transcription start site appeared to be located 344 bp upstream of the initiator methionine codon. The GC content in this region is very high. In Northern blot analysis, the IVD cDNA probe hybridized to three RNA species of sizes 2.1, 3.6, and 4.8 kb, respectively. The 2.1-kb band corresponds to the size of IVD cDNA. The results from experiments using an IVD-specific oligomer and stringent washes with 3.0 M tetramethylammonium chloride suggested that high GC content may have caused hybridization of the probe to the 3.6- and 4.8-kb species.
异戊酰辅酶A脱氢酶（IVD）催化亮氨酸分解代谢的第三步。IVD的基因缺陷会导致异戊酸血症。功能性IVD基因跨度约15kb，由12个外显子和11个内含子组成，外显子大小在52至728bp之间。聚腺苷酸（poly(A)）添加位点在该信号下游21个核苷酸处开始。5'侧翼区域除了其他假定的调控序列外，还包含典型的启动子元件，如TATA盒和CAT盒。转录起始位点似乎位于起始甲硫氨酸密码子上游344bp处。该区域的GC含量非常高。在Northern印迹分析中，IVD cDNA探针分别与大小为2.1、3.6和4.8kb的三种RNA分子杂交。2.1kb的条带与IVD cDNA的大小相对应。使用IVD特异性寡聚物并在3.0M四甲基氯化铵中进行严格洗涤的实验结果表明，高GC含量可能导致探针与3.6kb和4.8kb的分子杂交。
