Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat.
Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat.
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CMT1A-REP 区域的分子进化：人类和黑猩猩特异性重复。
DOI：
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发表时间：
1999
影响因子：
10.7
通讯作者：
P. Chance
中科院分区：
文献类型：
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作者：
M. Keller;B. Seifried;P. Chance
CMT 1A-REP重复序列由人类染色体17p11.2-12上的24 kb序列的两个拷贝组成，该序列位于含有剂量敏感基因外周神经蛋白22（PMP 22）的1.5 Mb区域的侧翼。在人类中，由CMT 1A-REP的近端和远端拷贝的未对准介导的不相等的减数分裂交换导致与两种常见的外周神经疾病相关的1.5-Mb重复或缺失，所述外周神经疾病为Charcot-Marie-Tooth病1A型（CMT 1A）和易患压力麻痹的遗传性神经病（HNPP）。先前对CMT 1A-REP序列的分子杂交研究表明，在黑猩猩中也发现了两个重复拷贝，这提高了这种独特重复在灵长类进化过程中出现的可能性。为了进一步表征CMT 1A-REP重复序列的结构和进化合成，对一系列灵长类动物进行了荧光原位杂交（FISH）分析和基于异源PCR的测定。基因组DNA进行了分析，选择引物差异扩增人类近端和远端CMT 1A-REP元件和相关的水手（MLE）序列的着丝粒和端粒末端。检查的所有灵长类物种（普通黑猩猩、侏儒黑猩猩、大猩猩、猩猩、长臂猿、狒狒、恒河猴、绿色猴、猫头鹰猴和盔猴）的远端元件拷贝均检测为阳性。除了人类，只有黑猩猩被发现有一个拷贝的近端CMT 1A-REP元件。除一种灵长类动物（galago）外，所有灵长类动物均对位于CMT 1A-REP序列内的MLE检测呈阳性。这些观察结果证实了远端CMT 1A-REP元件是灵长类进化过程中复制的祖先序列的假设，为人类-黑猩猩进化枝提供了支持，并表明MLE插入CMT 1A-REP序列发生在灵长类的祖先中。
The CMT1A-REP repeat consists of two copies of a 24-kb sequence on human chromosome 17p11.2-12 that flank a 1.5-Mb region containing a dosage-sensitive gene, peripheral nerve protein-22 (PMP22). Unequal meiotic crossover mediated by misalignment of proximal and distal copies of the CMT1A-REP in humans leads to a 1.5-Mb duplication or deletion associated with two common peripheral nerve diseases, Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). Previous molecular hybridization studies with CMT1A-REP sequences suggested that two copies of the repeat are also found in the chimpanzee, raising the possibility that this unique repeat arose during primate evolution. To further characterize the structure and evolutionary synthesis of the CMT1A-REP repeat, fluorescent in situ hybridization (FISH) analysis and heterologous PCR-based assays were carried out for a series of primates. Genomic DNA was analyzed with primers selected to differentially amplify the centromeric and telomeric ends of the human proximal and distal CMT1A-REP elements and an associated mariner (MLE) sequence. All primate species examined (common chimpanzee, pygmy chimpanzee, gorilla, orangutan, gibbon, baboon, rhesus monkey, green monkey, owl monkey, and galago) tested positive for a copy of the distal element. In addition to humans, only the chimpanzee was found to have a copy of the proximal CMT1A-REP element. All but one primate species (galago) tested positive for the MLE located within the CMT1A-REP sequence. These observations confirm the hypothesis that the distal CMT1A-REP element is the ancestral sequence which was duplicated during primate evolution, provide support for a human-chimpanzee clade, and suggest that insertion of the MLE into the CMT1A-REP sequence occurred in the ancestor of anthropoid primates.
非编码区五种载脂蛋白 B 基因多态性的分子基础。
影响因子：
6.5
作者：
Huang,LS;Ripps,ME;Breslow,JL
通讯作者：
Breslow,JL
高等灵长类α-珠蛋白重复单元镶嵌序列排列的分子起源。
DOI：
10.1073/pnas.94.10.5177
发表时间：
1997
影响因子：
11.1
作者：
Bailey,AD;Shen,CC;Shen,CK
通讯作者：
Shen,CK