Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes

Autor: Maria Luigia De Bonis, Richard I. Gregory, Maria R. Matarazzo, Marcella Vacca, Grazia Mercadante, R. Scott Hansen, Robert Feil, Michele D'Urso, Maurizio D'Esposito
Přispěvatelé: Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)
Jazyk: angličtina
Rok vydání: 2002
Předmět:
Male
Herpesvirus 4
Human

Alleles Cell Line
Hybrid Cells
Biology
X-inactivation
Histones
R-SNARE Proteins
03 medical and health sciences
Epigenetics of physical exercise
Histone methylation
Genetics
Humans
[SDV.BBM]Life Sciences [q-bio]/Biochemistry
Molecular Biology

Gene Silencing
Lymphocytes
Epigenetics
Transformed Chromatin/genetics Chromosomes
Promoter Regions
Genetic

Molecular Biology
RNA-Directed DNA Methylation
Alleles
Genetics (clinical)
Cell Line
Transformed

030304 developmental biology
Epigenomics
Chromosomes
Human
X

0303 health sciences
Chromosomes
Human
Y

Genetic Carrier Screening
030305 genetics & heredity
Membrane Proteins
General Medicine
DNA Methylation
Fibroblasts
X/*genetics Chromosomes
Molecular biology
Chromatin
Human Heterozygote Detection Histones/chemistry/metabolism Humans Hybrid Cells Lymphocytes/chemistry/metabolism/virology Male Membrane Proteins/biosynthesis/*genetics Promoter Regions
Genetic/genetics R-SNARE Proteins
Gene Expression Regulation
Histone methyltransferase
DNA methylation
CpG Islands
Female
Y/*genetics CpG Islands/genetics DNA Methylation Female Fibroblasts/chemistry/metabolism/virology Gene Expression Regulation/genetics *Gene Silencing Herpesvirus 4
Human
Zdroj: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2002, 11 (25), pp.3191--8. ⟨10.1093/hmg/11.25.3191⟩
Human molecular genetics
25 (2002): 3191–3198. doi:10.1093/hmg/11.25.3191
info:cnr-pdr/source/autori:Matarazzo MR, De Bonis ML, Gregory RI, Vacca M, Hansen RS, Mercadante G, D'Urso M, Feil R, D'Esposito M./titolo:Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes./doi:10.1093%2Fhmg%2F11.25.3191/rivista:Human molecular genetics (Print)/anno:2002/pagina_da:3191/pagina_a:3198/intervallo_pagine:3191–3198/volume:25
ISSN: 0964-6906
1460-2083
DOI: 10.1093/hmg/11.25.3191⟩
Popis: On the human long-arm pseudoautosomal region (XqPAR), genes that are subject to inactivation are closely linked with those that escape. Genes subject to inactivation are not only silenced on the inactive X in females, but they are also inactivated on the Y chromosome in males. One of the genes subject to this unusual inactivation pattern is the synaptobrevin-like 1 gene (SYBL1). Previously we showed that its silencing on the inactive X and the Y allele involves DNA methylation. This study explores the molecular events associated with SYBL1 silencing and investigates their relationship. Promoter DNA methylation profiles were determined by bisulfite sequencing and immunoprecipitation experiments demonstrate that chromatin on the repressed Xi and the Y alleles has underacetylated histones H3 and H4 and H3-lysine 9 methylation. In addition, the inactive X and the Y allele were found to have a condensed chromatin conformation. In contrast, the expressed allele shows H3 and H4 acetylation, H3-lysine 4 methylation and a less compacted chromatin conformation. In ICF syndrome, a human disease affecting DNA methylation, SYBL1 escapes from silencing and this correlates with altered patterns of histone methylation and acetylation. Combined, our data suggest that specific combinations of histone methylation and acetylation are involved in the somatic maintenance of permissive and repressed chromatin states at SYBL1. Although it is unclear at present how this allele-specific silencing comes about, the data also indicate that the epigenetic features of the 'Y inactivation' of SYBL1 are mechanistically similar to those associated with X-chromosome inactivation.
Databáze: OpenAIRE