Nelson I, d'Auriol L, Galibert F, Ponsot G, Lestienne P
Unité 298 I.N.S.E.R.M., C.H.R.U. Angers.
C R Acad Sci III. 1989;309(10):403-7.
We report the nucleotidic mapping of a 4,666 base pairs deletion of the human mitochondrial DNA localized at positions 8571 and 13237 in a Kearns-Sayre syndrome patient. The gene fusion between the 15 N terminal amino acid residues of ATP synthetase subunit 6 and the 303 C terminal aminoacids of NADH dehydrogenase yields a potential protein of 35,000 d MW called A6-ND5. Deletion boundaries show a short inverted repeat ATCXTA. The heteroplasmic deletion mechanism is discussed in view of these data.
我们报告了一名患有卡恩斯-塞尔综合征患者的人类线粒体DNA中4666个碱基对缺失的核苷酸定位，该缺失位于8571和13237位。ATP合酶亚基6的15个N端氨基酸残基与NADH脱氢酶的303个C端氨基酸之间的基因融合产生了一种潜在的分子量为35000道尔顿的蛋白质，称为A6-ND5。缺失边界显示出一个短的反向重复序列ATCXTA。基于这些数据讨论了异质性缺失机制。
