MOLECULAR MECHANISM IN THE FORMATION OF A HUMAN RING CHROMOSOME-21
MOLECULAR MECHANISM IN THE FORMATION OF A HUMAN RING CHROMOSOME-21
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DOI：
10.1073/pnas.86.6.1914
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发表时间：
1989-03-01
影响因子：
11.1
通讯作者：
ANTONARAKIS, SE
中科院分区：
文献类型：
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作者：
WONG, C;KAZAZIAN, HH;ANTONARAKIS, SE
我们已经描述了导致人类环状21号染色体从头形成的21号染色体的结构重排[r(21)]。环连接两侧DNA区域的分子克隆和染色体定位为长臂到长臂融合形成r(21)提供了证据。此外，母体染色体21的着丝粒和近端长臂区域在r(21)中复制。因此，r(21)的形成机制是复杂的，涉及两个顺序的染色体重排。(I)一条母体21号染色体的着丝粒和长臂发生重复，形成重排的中间产物。(Ii)在这个重排的染色体的相对臂上，近端和端粒长臂区域发生了染色体断裂，随后的重组产生了r(21)。
We have characterized the structural rearrangements of a chromosome 21 that led to the de novo formation of a human ring chromosome 21 [r(21)]. Molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation of the r(21). In addition, the centromere and proximal long arm region of a maternal chromsome 21 are duplicated in the r(21). Therefore, the mechanism in formation of the r(21) was complex involving two sequential chromosomal rearrangements. (i) Duplication of the centromere and long arm of one maternal chromosome 21 occurred forming a rearranged intermediate. (ii) Chromosomal breaks in both the proximal and telomeric long arm regions on opposite arms of this rearranged chromosome occurred with subsequent reunion producing the r(21).