Document Detail

Heterogeneity of pericentric inversions of the human y chromosome.
MedLine Citation:
PMID:  21307635     Owner:  NLM     Status:  In-Data-Review    
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 CDY 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.
S Knebel; J J Pasantes; D A D Thi; F Schaller; W Schempp
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Publication Detail:
Type:  Journal Article     Date:  2011-02-01
Journal Detail:
Title:  Cytogenetic and genome research     Volume:  132     ISSN:  1424-859X     ISO Abbreviation:  Cytogenet. Genome Res.     Publication Date:  2011  
Date Detail:
Created Date:  2011-02-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101142708     Medline TA:  Cytogenet Genome Res     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  219-26     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 S. Karger AG, Basel.
Institute of Human Genetics, University Clinic Freiburg, Freiburg, Germany.
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