Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs)

Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
H KühlW Schempp

Abstract

Applying fluorescence in-situ hybridization (FISH) of various Y chromosomal DNA probes to four familial cases of human Yqs, it was possible to demonstrate that the formation of Yqs must have arisen from a reciprocal translocation involving the short arm of an acrocentric autosome and the heterochromatin of the long arm of the Y chromosome (Yqh). Breakpoints map within Yqh and the proximal short arm of an acrocentric autosome resulting in the gain of a nucleolus organizer region (NOR) including the telomere repeat (TTAGGG)n combined with the loss of the pseudoautosomal region 2 (PAR2) at the long arm of the recipient Y chromosome. In no case could the reciprocal product of an acrocentric autosome with loss of the NOR and gain of PAR2 be detected. Using the 15p-specific classical satellite-III probe D15Z1 in two of the four Yqs probands presented here, it could be shown that the satellited material originated from the short arm of chromosome 15. In contrast to the loss of PAR2 in Yqs chromosomes, another Y chromosomal variant (Yqh-) showing deletion of long-arm heterochromatin in Yq12 has retained PAR2 referring to an interstitial deletion of Yq heterochromatin in such deleted Y chromosomes.

Citations

Sep 16, 2006·Cytogenetic and Genome Research·R WimmerI Hansmann
Nov 19, 2009·American Journal of Medical Genetics. Part a·Irene Mademont-SolerAnna Soler
Sep 28, 2006·Journal of Autism and Developmental Disorders·Thomas H WassinkShivanand R Patil
Feb 11, 2011·Cytogenetic and Genome Research·S KnebelW Schempp
Nov 19, 2011·Systems Biology in Reproductive Medicine·Ester AntonJoan Blanco
Sep 16, 2006·Cytogenetic and Genome Research·M DesGroseilliersN Lemieux
Aug 21, 2020·Cell & Bioscience·Yun-Fai Chris Lau
Feb 26, 2004·American Journal of Medical Genetics. Part a·C BorieP Eydoux
Oct 4, 2011·American Journal of Medical Genetics. Part a·Mélanie Beaulieu BergeronNicole Lemieux
Feb 5, 2003·Genome Research·Fadi J CharcharJennifer A Marshall Graves

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