Marin-Garcia J, Ananthakrishnan R, Goldenthal M J
Molecular Cardiology Institute, Highland Park, NJ 08904.
Biochem Mol Biol Int. 1994 Aug;33(5):817-25.
A deletion of about 5.3 kilobases has been detected in the mitochondrial DNA of bovine cardiac tissue. This deletion appears to be somatic in origin given its sporadic presence in the various heart compartments examined. Cardiac tissue derived from developmental stages including fetal, early and older adult animals harbored this mutation with increased levels (100-1000 fold) found in older adults. The deleted region of the mitochondrial genome maps to relatively the same area (deleting ATPase6, COXIII, ND2, ND4 and a portion of ND5) as the common 5 kb deletion reported in humans, but its presence in fetal tissue, as well as its decreased age dependence distinguish it relative to the reported human deletion.
在牛心脏组织的线粒体DNA中检测到约5.3千碱基的缺失。鉴于其在检查的各个心脏腔室中呈散发性存在,这种缺失似乎起源于体细胞。来自包括胎儿、幼年和成年动物在内的发育阶段的心脏组织都携带这种突变,在成年动物中发现其水平升高(100 - 1000倍)。线粒体基因组的缺失区域与人类报道的常见5 kb缺失映射到相对相同的区域(缺失ATPase6、COXIII、ND2、ND4和部分ND5),但其在胎儿组织中的存在以及对年龄依赖性的降低使其与报道的人类缺失有所不同。