The Y* rearrangement in mice: new insights into a perplexing PAR

The Y* rearrangement in mice: new insights into a perplexing PAR
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DOI:
10.1159/000014954
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发表时间:
1998-01-01
期刊:
CYTOGENETICS AND CELL GENETICS
影响因子:
--
通讯作者:
Ashworth, A
Ashworth, A
中科院分区:
其他
文献类型:
--
作者:
Burgoyne, PS;Mahadevaiah, SK;Ashworth, A

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从本质上讲,小鼠中的Y*重排是一条Y染色体被附着在假常染色体区(PAR)远端的非Y着丝粒劫持。所有的Y-独特物质被认为是不变的,但在雄性减数分裂期间,Y*与X的重组行为导致了PAR部分反转的结论。在将x连锁突变斑毛(Paf)引入XY*雄性的杂交过程中,Y*染色体被发现携带Paf的野生型等位基因。Paf图谱接近X- PAR边界,因此我们假设Y* PAR的倒转区域起源于一条X染色体,该染色体不仅提供了近端PAR的倒转拷贝,而且还提供了X- PAR边界以及一些相邻的X-unique物质,其中包括Paflocus。这一假设被Southern用X PAR边界探针分析证实,表明Y*具有X PAR边界。因此,Y ' ' PAR是由X和Y PAR的端到端融合产生的。此外,研究表明,在这种PAR-PAR融合的同时,位于远端的假常染色体基因类固醇硫酸酯酶(Sts)的两个拷贝都被删除了。
In essence, the Y* rearrangement in the mouse is a Y chromosome that has been hijacked by a non-Y centromere attached distal to the pseudoautosomal region (PAR). Al the Y-unique material is thought to be unaltered, but the recombinatory behaviour of the Y* with the X during male meioisis led to the conclusion that part of the PAR is inverted. In the course of a cross set up to introduce the X-linked mutation Patchy fur (Paf) into XY* males, the Y* chromosome was found to carry the wild type allele of Paf. Paf maps close to the X PAR boundary, so we hypothesised that the inverted region of the Y* PAR originated from an X chromosome that provided not only an inverted copy of proximal PAR, but also an X PAR boundary together with some adjacent X-unique material that included the Paflocus. This hypothesis was validated by Southern analysis using an X PAR boundary probe to show that Y* has an X PAR boundary. Thus the Y" PAR has resulted from an end to end fusion of an X and a Y PAR. Furthermore, it was shown that in conjuction With this PAR-PAR fusion, there has been deletion of both copies of the distally located pseudoautosomal gene Steroid sulfatase (Sts).