Heterogeneity of Pericentric Inversions of the Human Y Chromosome
Heterogeneity of Pericentric Inversions of the Human Y Chromosome
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DOI：
10.1159/000322080
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发表时间：
2011-01-01
影响因子：
1.7
通讯作者：
Schempp, W.
中科院分区：
文献类型：
--
作者：
Knebel, S.;Pasantes, J. J.;Schempp, W.
人类Y染色体的臂周倒位（inv（Y））是Yp和Yq中断点的结果。这些断裂点是在特定的热点上反复出现，还是沿着人类Y染色体重复结构沿着出现在不同的位置，这是一个悬而未决的问题。采用FISH技术对9例inv（Y）染色体的倒位断点进行了更好的定义和细化，显带分析后，这些染色体的中部着丝粒外观似乎没有变化，这明确地导致了人类Y染色体臂间倒位的异质性。虽然在所有9个inv（Y）病例中，短臂中的倒位断点落在Yp11.2中靠近PAR 1和SRY的X转座序列的基因贫乏区域中，但在长臂中明显存在3个不同的倒位断点。Inv（Y）-I型和II型是家族性病例，其显示出映射在Yq11.23或Yq11.223中的倒位断点，在AZFc中DAZ和CDY的扩增子育性基因簇之外。Inv（Y）-III型显示Yq11.223中的倒位断点，其在AZFc中分裂DAZ和COY育性基因簇。这种倒位类型在家族性病例和生精障碍病例中均有代表性。在另一个inv（Y）家族病例中，几乎具有近端着丝粒形态，断点位于Yp的TSPY和RBMY重复序列内，Yq的异染色质内。因此，在某些inv（Y）情况下导致生育力受损的特定倒位断点的存在仍然是一个悬而未决的问题。版权所有（C）2011 S. Karger AG，巴塞尔
Pericentric inversions of the human Y chromosome (inv(Y)) are the result of breakpoints in Yp and Yq. Whether these breakpoints occur recurrently on specific hotspots or appear at different locations along the repeat structure of the human Y chromosome is an open question. Employing FISH for a better definition and refinement of the inversion breakpoints in 9 cases of inv(Y) chromosomes, with seemingly unvarying metacentric appearance after banding analysis, unequivocally resulted in heterogeneity of the pericentric inversions of the human Y chromosome. While in all 9 inv(Y) cases the inversion breakpoints in the short arm fall in a gene-poor region of X-transposed sequences proximal to PAR1 and SRY in Yp11.2, there are clearly 3 different inversion breakpoints in the long arm. Inv(Y)-types I and II are familial cases showing inversion breakpoints that map in Yq11.23 or in Yq11.223, outside the ampliconic fertility gene cluster of DAZ and CDY in AZFc. Inv(Y)-type III shows an inversion breakpoint in Yq11.223 that splits the DAZ and COY fertility gene-cluster in AZFc. This inversion type is representative of both familial cases and cases with spermatogenetic impairment. In a further familial case of inv(Y), with almost acrocentric morphology, the breakpoints are within the TSPY and RBMY repeat in Yp and within the heterochromatin in Yq. Therefore, the presence of specific inversion breakpoints leading to impaired fertility in certain inv(Y) cases remains an open question. Copyright (C) 2011 S. Karger AG, Basel