Human male meiotic sex chromosome inactivation.

PloS One
Marieke De VriesPeter de Boer

Abstract

In mammalian male gametogenesis the sex chromosomes are distinctive in both gene activity and epigenetic strategy. At first meiotic prophase the heteromorphic X and Y chromosomes are placed in a separate chromatin domain called the XY body. In this process, X,Y chromatin becomes highly phosphorylated at S139 of H2AX leading to the repression of gonosomal genes, a process known as meiotic sex chromosome inactivation (MSCI), which has been studied best in mice. Post-meiotically this repression is largely maintained. Disturbance of MSCI in mice leads to harmful X,Y gene expression, eventuating in spermatocyte death and sperm heterogeneity. Sperm heterogeneity is a characteristic of the human male. For this reason we were interested in the efficiency of MSCI in human primary spermatocytes. We investigated MSCI in pachytene spermatocytes of seven probands: four infertile men and three fertile controls, using direct and indirect in situ methods. A considerable degree of variation in the degree of MSCI was detected, both between and within probands. Moreover, in post-meiotic stages this variation was observed as well, indicating survival of spermatocytes with incompletely inactivated sex chromosomes. Furthermore, we investigated the p...Continue Reading

References

Jan 1, 1991·Methods in Cell Biology·C Heyting, A J Dietrich
Apr 1, 1991·Trends in Genetics : TIG·P KoopmanR Lovell-Badge
Jan 1, 1974·The Journal of Cell Biology·A L Kierszenbaum, L L Tres
Jan 1, 1974·International Review of Cytology·A J Solari
Aug 1, 1965·Experimental Cell Research·V Monesi
Jan 1, 1971·Zeitschrift für Zellforschung und mikroskopische Anatomie·M J Rowley, C G Heller
Jan 1, 1967·Chromosoma·A J Solari, L L Tres
Jan 1, 1984·Cytogenetics and Cell Genetics·A C ChandleyR M Speed
Jan 1, 1993·Chromosoma·B D McKee, M A Handel
Feb 1, 1997·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·A H PetersP de Boer
Oct 6, 1997·The EMBO Journal·A L BarlowM A Hultén
Jan 8, 1998·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·A J Solari, G Rey Valzacchi
Mar 10, 2001·Nature Genetics·S K MahadevaiahP S Burgoyne
Sep 11, 2002·Human Reproduction Update·N S MacklonB C J M Fauser
Apr 12, 2003·Developmental Cell·Oscar Fernandez-CapetilloAndré Nussenzweig
Sep 10, 2003·Journal of Molecular Evolution·Isabelle DupanloupGuido Barbujani
Apr 12, 1963·Science·C G HELLER, Y CLERMONT
Nov 1, 1964·The American Journal of Digestive Diseases·R G SHORTERR J REITEMEIER
Mar 31, 2004·Cytogenetic and Genome Research·D G de Rooij, P de Boer
Jun 26, 2004·Cytogenetic and Genome Research·P de BoerE R te Velde
Oct 7, 2004·Cytogenetic and Genome Research·T HassoldA Lynn
Oct 19, 2004·Physiology & Behavior·Alan F Dixson, Matthew J Anderson
Dec 8, 2004·Nature Genetics·James M A TurnerPaul S Burgoyne
Dec 14, 2004·Current Biology : CB·James M A TurnerChu-Xia Deng
Dec 30, 2004·Nature Genetics·John Schimenti
Aug 10, 2005·Human Molecular Genetics·Peter J I EllisPaul S Burgoyne
Aug 27, 2005·Molecular Human Reproduction·M Oliver-BonetR H Martin
Sep 30, 2005·Cytogenetic and Genome Research·M Oliver-BonetR H Martin
Apr 4, 2006·Current Biology : CB·Satoshi H NamekawaJeannie T Lee

❮ Previous
Next ❯

Citations

Mar 18, 2017·Human Genetics·Beniamino Trombetta, Fulvio Cruciani
Mar 16, 2018·Development·Sabrina Z JanGeert Hamer
Apr 18, 2015·BMC Genomics·Federica FedericiWilly M Baarends
Feb 20, 2019·Nature Structural & Molecular Biology·Lucas PatelKevin D Corbett
May 24, 2014·Biology of Reproduction·Dideke E VerverGeert Hamer
Aug 18, 2020·Primates; Journal of Primatology·Sawako OkadaMasanori Imamura
Aug 4, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Csilla KrauszFrank Tüttelmann
Jun 6, 2017·Human Reproduction Update·Mieke Geens, Susana M Chuva De Sousa Lopes
Mar 23, 2021·Frontiers in Cell and Developmental Biology·Adriana GeisingerRicardo Benavente
Dec 6, 2012·Biology Open·Marieke De VriesPeter De Boer
Sep 15, 2021·Molecular Biology and Evolution·Kevin R BredemeyerWilliam J Murphy
Jan 1, 2022·Cellular and Molecular Life Sciences : CMLS·Kris G AlavattamSatoshi H Namekawa

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies
biopsy

Software Mentioned

Axiovision

Related Concepts

Related Feeds

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.