CHARCOT-MARIE-TOOTH TYPE-1A DUPLICATION APPEARS TO ARISE FROM RECOMBINATION AT REPEAT SEQUENCES FLANKING THE 1.5 MB MONOMER UNIT
CHARCOT-MARIE-TOOTH TYPE-1A DUPLICATION APPEARS TO ARISE FROM RECOMBINATION AT REPEAT SEQUENCES FLANKING THE 1.5 MB MONOMER UNIT
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DOI：
10.1038/ng1292-292
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发表时间：
1992-12-01
期刊：
影响因子：
30.8
通讯作者：
LUPSKI, JR
中科院分区：
文献类型：
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作者：
PENTAO, L;WISE, CA;LUPSKI, JR
我们构建了染色体17p11.2-p12的3.1兆碱基（Mb）物理图谱，其中包含Charcot-Marie-Tooth病1A型（CMT 1A）患者的亚显微重复。我们发现CMT 1A重复序列是一个1.5Mb的串联重复序列。还开发了包含CMT 1A重复并跨越端点的YAC重叠群。在17p11.2-p12中鉴定了几个低拷贝重复，包括大的（> 17 kb）CMT 1A-REP单元，其可能是镶嵌重复的一部分。CMT 1A-REP位于正常染色体17上的1.5 Mb CMT 1A单体单元的侧翼，并存在于CMT 1A复制染色体上的额外拷贝中。我们提出，从头CMT 1A重复产生不平等的交换，由于这些CMT 1A-REP重复序列在减数分裂过程中的错位。
We have constructed a 3.1 megabase (Mb) physical map of chromosome 17p11.2-p12, which contains a submicroscopic duplication in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). We find that the CMT1A duplication is a tandem repeat of 1.5 Mb of DNA. A YAC contig encompassing the CMT1A duplication and spanning the endpoints was also developed. Several low copy repeats in 17p11.2-p12 were identified including the large (> 17 kb) CMT1A-REP unit which may be part of a mosaic repeat. CMT1A-REP flanks the 1.5 Mb CMT1A monomer unit on normal chromosome 17 and is present in an additional copy on the CMT1A duplicated chromosome. We propose that the de novo CMT1A duplication arises from unequal crossing over due to misalignment these CMT1A-REP repeat sequences during meiosis.