About: Dosage Compensation of an Aneuploid Genome in Mouse Spermatogenic Cells

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Autosomal trisomies and monosomies bring serious threats to embryonic development through transcriptional disarray caused primarily by the dosage effect of the aneuploid part of the genome. The present study compared the effect of a mouse-viable 30-Mb segmental trisomy on the genome-wide transcriptional profile of somatic (liver) cells and male germ cells. Although the 1.6-fold change in expression of triplicated genes reflected the gene dosage in liver cells, the extra copy genes were compensated in early pachytene spermatocytes, showing 1.18-fold increase. Although more pronounced, the dosage compensation of trisomic genes was concordant with the incidence of HORMAD2 protein and histone gammaH2AX markers of unsynapsed chromatin. A possible explanation for this includes insufficient sensitivity to detect the meiotic silencing of unsynapsed chromatin markers in the 30-Mb region of the chromosome or an earlier silencing effect of another epigenetic factor. Taken together, our results indicate that the meiotic silencing of unsynapsed chromatin is the major, but most likely not the only, factor driving the dosage compensation of triplicated genes in primary spermatocytes. Autosomal trisomies and monosomies bring serious threats to embryonic development through transcriptional disarray caused primarily by the dosage effect of the aneuploid part of the genome. The present study compared the effect of a mouse-viable 30-Mb segmental trisomy on the genome-wide transcriptional profile of somatic (liver) cells and male germ cells. Although the 1.6-fold change in expression of triplicated genes reflected the gene dosage in liver cells, the extra copy genes were compensated in early pachytene spermatocytes, showing 1.18-fold increase. Although more pronounced, the dosage compensation of trisomic genes was concordant with the incidence of HORMAD2 protein and histone gammaH2AX markers of unsynapsed chromatin. A possible explanation for this includes insufficient sensitivity to detect the meiotic silencing of unsynapsed chromatin markers in the 30-Mb region of the chromosome or an earlier silencing effect of another epigenetic factor. Taken together, our results indicate that the meiotic silencing of unsynapsed chromatin is the major, but most likely not the only, factor driving the dosage compensation of triplicated genes in primary spermatocytes. (en)
Title	Dosage Compensation of an Aneuploid Genome in Mouse Spermatogenic Cells Dosage Compensation of an Aneuploid Genome in Mouse Spermatogenic Cells (en)
skos:prefLabel	Dosage Compensation of an Aneuploid Genome in Mouse Spermatogenic Cells Dosage Compensation of an Aneuploid Genome in Mouse Spermatogenic Cells (en)
skos:notation	RIV/68378050:_____/14:00431298!RIV15-GA0-68378050
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(ED0030/01/01), P(GA13-08078S), P(GPP301/11/P554)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Bártek, Jiří Jansa, Petr Homolka, David Forejt, Jiří Blatný, Radek
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Ústav molekulární genetiky AV ČR, v. v. i.
http://linked.open...dnocenehoVysledku	12266
http://linked.open...ai/riv/idVysledku	RIV/68378050:_____/14:00431298
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	gene dosage; male sterility; segmental trisomy; meiotic silencing of unsynapsed chromatin; DOWN-SYNDROME; MAMMALIAN MEIOSIS (en)
http://linked.open.../riv/klicoveSlovo	MAMMALIAN MEIOSIS gene dosage male sterility segmental trisomy DOWN-SYNDROME meiotic silencing of unsynapsed chromatin
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[F71464F5983E]
http://linked.open...i/riv/nazevZdroje	Biology of Reproduction
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	Biomedicine for regional development and human resources Modulation of poly-ADP-ribosylation in DNA damage response and targeted treatment Genomická architektura a molekulární podstata hybridní sterility myši.
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	90
http://linked.open...iv/tvurceVysledku	Forejt, Jiří Jansa, Petr Homolka, David Bartek, Jiří Blatný, Radek Mistrik, M.
http://linked.open...ain/vavai/riv/wos	000337674200009
issn	0006-3363
number of pages	9 (xsd:int)
http://bibframe.org/vocab/doi	10.1095/biolreprod.114.118497

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