The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region.
The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region.
复制标题
包含同源盒重复 D4Z4 的进化分布和结构组织表明了 FSHD 区域中祖先副本的功能作用。
DOI：
10.1093/hmg/5.10.1567
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发表时间：
1996
影响因子：
3.5
通讯作者：
S. Jacobsen
中科院分区：
文献类型：
--
作者：
S. Winokur;U. Bengtsson;J. C. Vargas;J. Wasmuth;M. Altherr;B. Weiffenbach;S. Jacobsen
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disease that has been linked to deletions within a tandem array of 3.2 kb repeats adjacent to the telomere of 4q. These repeats are also present in other locations in the human genome, including the short arms of all the acrocentric chromosomes. Here, we examine two models for the role of this repeat in FSHD. First, because of the extensive similarity between the 3.2 kb repeats on 4q and those adjacent to rDNA on the acrocentric chromosomes, we investigated whether the FSHD region on 4q is involved in sub-nuclear localization, specifically to the nucleolus. The results likely exclude any involvement of nucleolar localization in the development of FSHD. Second, we investigated a model that suggests that a functional gene may be buried within the tandem array of 3.2 kb repeats. Toward this end, we evaluated the evolutionary conservation of the repeat and a double homeodomain sequence within the repeat in a variety of primate species. The genomic organization of the 3.2 kb repeat in humans, great apes and lower primates identified the FSHD-associated repeat on chromosome 4q as the likely ancestral copy. The sequence of the rhesus monkey double homeodomain reveals significant sequence identity with the human 4q sequence. These results strongly suggest a functional role for a component of the FSHD-associated repeat.
4 号染色体远端长臂上 15 个基因座的辐射杂交图谱，该区域包含导致面肩肱型肌营养不良症 (FSHD) 的基因。
影响因子：
9.8
作者：
Winokur,ST;Schutte,B;Weiffenbach,B;Washington,SS;McElligott,D;Chakravarti,A;Wasmuth,JH;Altherr,MR
通讯作者：
Altherr,MR