Overview

X chromosome inactivation occurs early during mammalian development to transcriptionally silence one of the pair of X chromosomes in females, thereby achieving dosage equivalence with males who have a single X chromosome and the sex-determining Y chromosome. Research in the lab is directed towards understanding both the mechanisms involved in the inactivation process and the clinical implications of X chromosome inactivation in females.

Publications

How do genes that escape from X-chromosome inactivation contribute to Turner syndrome?
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Samantha B. Peeters and Andrea J. Korecki and Sarah E.L. Baldry and Christine Yang and Kira Tosefsky and Bradley P. Balaton and Elizabeth M. Simpson and Carolyn J. Brown
DOI: 10.1002/ajmg.c.31672
03/2019

The eXceptional nature of the X chromosome
Human Molecular Genetics
Bradley P Balaton and Thomas Dixon-McDougall and Samantha B Peeters and Carolyn J Brown
DOI: 10.1093/hmg/ddy148
08/2018

Human cis-acting elements regulating escape from X-chromosome inactivation function in mouse
Human Molecular Genetics
Samantha B Peeters and Andrea J Korecki and Elizabeth M Simpson and Carolyn J Brown
DOI: 10.1093/hmg/ddy039
02/2018

Impact of flanking chromosomal sequences on localization and silencing by the human non-coding RNA XIST
Genome Biology
DOI: 10.1186/s13059-015-0774-2
12/2015

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation
Human Molecular Genetics
DOI: 10.1093/hmg/ddu564
2015

Unique somatic and malignant expression patterns implicate PIWI-interacting RNAs in cancer-type specific biology
Scientific Reports
DOI: 10.1038/srep10423
2015

Variable escape from X-chromosome inactivation: Identifying factors that tip the scales towards expression
BioEssays
Samantha B. Peeters and Allison M. Cotton and Carolyn J. Brown
DOI: 10.1002/bies.201400032
06/2014

Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome
Genome Biol
DOI: 10.1186/gb-2013-14-11-r122
2013

Translating dosage compensation to trisomy 21
DOI: 10.1038/nature12394
2013

XIST-induced silencing of flanking genes is achieved by additive action of repeat a monomers in human somatic cells
DOI: 10.1186/1756-8935-6-23
2013

Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array
Epigenetics and Chromatin
DOI: 10.1186/1756-8935-6-4
2013

DNA Methylation is Globally Disrupted and Associated with Expression Changes in COPD Small Airways
Am J Respir Cell Mol Biol
DOI: 10.1165/rcmb.2013-0304OC
2013

EYA4 is inactivated biallelically at a high frequency in sporadic lung cancer and is associated with familial lung cancer risk
Oncogene
DOI: 10.1038/onc.2013.396
2013

Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains
Hum Mol Genet
DOI: 10.1093/hmg/ddt513
2013

Patterns of placental development evaluated by X chromosome inactivation profiling provide a basis to evaluate the origin of epigenetic variation
Human Reproduction
DOI: 10.1093/humrep/des072
2012

Targeting of >1.5 Mb of human DNA into the mouse X chromosome reveals presence of cis-acting regulators of epigenetic silencing
Genetics
DOI: 10.1534/genetics.112.143743
2012

Epigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action
DOI: 10.1203/pdr.0b013e318213565e
2011

X-chromosome inactivation: Molecular mechanisms from the human perspective
Human Genetics
DOI: 10.1007/s00439-011-0994-9
2011

The functional role of long non-coding RNA in human carcinomas
Molecular Cancer
DOI: 10.1186/1476-4598-10-38
2011

S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas
Journal of Neuroscience Research
DOI: 10.1002/jnr.22654
2011

Human cancer long non-coding RNA transcriptomes
PLoS ONE
DOI: 10.1371/journal.pone.0025915
2011

Epigenetic impacts on neurodevelopment: Pathophysiological mechanisms and genetic modes of action
Pediatric Research
DOI: 10.1203/PDR.0b013e318213565e
2011

Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation
Human Genetics
DOI: 10.1007/s00439-011-1007-8
2011

Acquired TNFRSF14 mutations in follicular lymphoma are associated with worse prognosis
Cancer Research
DOI: 10.1158/0008-5472.CAN-10-2460
2010

Identification of regulatory elements flanking human XIST reveals species differences
BMC Molecular Biology
DOI: 10.1186/1471-2199-11-20
2010

Active chromatin marks are retained on X chromosomes lacking gene or repeat silencing despite XIST/Xist expression in somatic cell hybrids
PLoS ONE
DOI: 10.1371/journal.pone.0010787
2010

Methylated DNA Immunoprecipitation
DOI: 10.3791/935
2009

Methylated DNA immunoprecipitation.
Journal of visualized experiments : JoVE
2009

Inactive X chromosome-specific reduction in placental DNA methylation
Human Molecular Genetics
DOI: 10.1093/hmg/ddp299
2009

Getting to the center of X-chromosome inactivation: The role of transgenes
Biochemistry and Cell Biology
DOI: 10.1139/O09-040
2009

Erratum: X chromosome inactivation: Heterogeneity of heterochromatin (Biochem. Cell. Biol (2008) 86 (370-379))
Biochemistry and Cell Biology
DOI: 10.1139/O08-146
2009

A skewed view of X chromosome inactivation
DOI: 10.1172/jci34470
2008

X chromosome inactivation: Heterogeneity of heterochromatin
Biochemistry and Cell Biology
DOI: 10.1139/O08-100
2008

Prognostic significance of secondary cytogenetic alterations in follicular lymphomas
Genes Chromosomes and Cancer
DOI: 10.1002/gcc.20606
2008

Epigenetics of cancer progression
Pharmacogenomics
DOI: 10.2217/14622416.9.2.215
2008

Correction: BCoR-L1 variation and breast cancer
Breast Cancer Research
DOI: 10.1186/bcr2153
2008

A skewed view of X chromosome inactivation
Journal of Clinical Investigation
DOI: 10.1172/JCI34470
2008

Comparative Cancer Epigenomics
DOI: 10.1201/9781420008876.ch14
2007

Patchwork women
DOI: 10.1038/ng0907-1043
2007

Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.31679
2007

Reply to Dr. Robert A. Hegele [2]
American Journal of Human Genetics
DOI: 10.1086/521416
2007

Inducible XIST-dependent X-chromosome inactivation in human somatic cells is reversible
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0610946104
2007

BCoR-L1 variation and breast cancer
Breast Cancer Research
DOI: 10.1186/bcr1759
2007

A cross-species comparison of X-chromosome inactivation in Eutheria
Genomics
DOI: 10.1016/j.ygeno.2007.07.002
2007

A comprehensive analysis of common copy-number variations in the human genome
American Journal of Human Genetics
DOI: 10.1086/510560
2007

Epigenomics: Mapping the methylome
Cell Cycle
2006

Mechanisms of X-chromosome inactivation
Frontiers in Bioscience
DOI: 10.2741/1842
2006

Human X chromosome inactivation
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
Samuel C. Chang and Carolyn J. Brown
DOI: 10.1002/047001153x.g102201
01/2005


DOI: 10.1186/1471-2156-6-48
2005

Silencing of the mammalian X chromosome
Annual Review of Genomics and Human Genetics
DOI: 10.1146/annurev.genom.6.080604.162350
2005

Investigations of the genomic region that contains the clf1 mutation, a causal gene in multifactorial cleft lip and palate in mice
Birth Defects Research Part A - Clinical and Molecular Teratology
DOI: 10.1002/bdra.20106
2005

A Unique Patient with an Ullrich-Turner Syndrome Variant and Mosaicism for a Tiny r(X) and a Partial Proximal Duplication 1q
American Journal of Medical Genetics
2004

The dynamics of X-inactivation skewing as women age
Clinical Genetics
DOI: 10.1111/j.1399-0004.2004.00310.x
2004

A stain upon the silence: genes escaping X inactivation
DOI: 10.1016/s0168-9525(03)00177-x
2003

X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case
American Journal of Medical Genetics
2003

Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies
American Journal of Human Genetics
DOI: 10.1086/346119
2003

Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns [2]
American Journal of Medical Genetics
2003

Forming facultative heterochromatin: Silencing of an X chromosome in mammalian females
Cellular and Molecular Life Sciences
DOI: 10.1007/s00018-003-3121-9
2003

Characterization of expression at the human XIST locus in somatic, embryonal carcinoma, and transgenic cell lines
Genomics
DOI: 10.1016/S0888-7543(03)00170-8
2003

Beyond sense: The role of antisense RNA in controlling Xist expression
Seminars in Cell and Developmental Biology
DOI: 10.1016/j.semcdb.2003.09.013
2003

A stain upon the silence: Genes escaping X inactivation
Trends in Genetics
DOI: 10.1016/S0168-9525(03)00177-X
2003

Variability of X chromosome inactivation: effect on levels of TIMP1 RNA and role of DNA methylation
DOI: 10.1007/s00439-002-0676-8
2002

Relationship of XIST expression and responses of ovarian cancer to chemotherapy.
Molecular cancer therapeutics
2002

Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay
European Journal of Human Genetics
DOI: 10.1038/sj/ejhg/5200757
2002

Ectopic XIST transcripts in human somatic cells show variable expression and localization
Cytogenetic and Genome Research
DOI: 10.1159/000071579
2002

Biology of the X chromosome: Molecular and clinical correlates
Seminars in Reproductive Medicine
2001

X chromosome-specific cDNA arrays: Identification of genes that escape from X-inactivation and other applications
Human Molecular Genetics
2001

Unravelling the complex genetics of cleft lip in the mouse model
Mammalian Genome
DOI: 10.1007/s003350010284
2001

Skewed X inactivation and recurrent spontaneous abortion
Seminars in Reproductive Medicine
DOI: 10.1055/s-2001-15397
2001

Equality of the sexes: Mammalian dosage compensation
Seminars in Reproductive Medicine
DOI: 10.1055/s-2001-15392
2001

Determination of X-Chromosome Inactivation Status Using X-Linked Expressed Polymorphisms Identified by Database Searching
DOI: 10.1006/geno.2000.6153
2000

The causes and consequences of random and non-random X chromosome inactivation in humans
Clinical Genetics
DOI: 10.1034/j.1399-0004.2000.580504.x
2000

Involvement of the X chromosome in non-Hodgkin lymphoma
Genes Chromosomes and Cancer
2000

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta
Clinical Genetics
DOI: 10.1034/j.1399-0004.2000.580603.x
2000

Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion [2]
American Journal of Human Genetics
DOI: 10.1086/302552
1999

Skewed X-chromosome inactivation: Cause or consequence
Journal of the National Cancer Institute
1999

Polymorphic X-chromosome inactivation of the human TIMP1 gene
American Journal of Human Genetics
DOI: 10.1086/302556
1999

Induction of XIST expression from the human active X chromosome in mouse/human somatic cell hybrids by DNA demethylation
Nucleic Acids Research
DOI: 10.1093/nar/26.12.2935
1998

Stabilization and localization of Xist RNA are controlled by separate mechanisms and are not sufficient for X inactivation
Journal of Cell Biology
DOI: 10.1083/jcb.142.1.13
1998

Expression of genes from the human active and inactive X chromosomes
American Journal of Human Genetics
1997

XIST expression and X-chromosome inactivation in human preimplantation embryos
American Journal of Human Genetics
1997

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism
American Journal of Human Genetics
DOI: 10.1086/301651
1997

Evidence that heteronuclear proteins interact with the XIST RNA in vitro
Somatic Cell and Molecular Genetics
DOI: 10.1007/BF02369896
1996

Role of the X chromosome in cancer.
Journal of the National Cancer Institute
1996

Direct detection of non-random X chromosome inactivation by use of a transcribed polymorphism in the XIST gene
European Journal of Human Genetics
1995

The DXS423E gene in Xp11.21 escapes X chromosome inactivation
Human Molecular Genetics
1995

Identification of a PIG-A related processed gene on chromosome 12
Human Genetics
DOI: 10.1007/BF00209489
1995

The human X-inactivation centre is not required for maintenance of X-chromosome inactivation
DOI: 10.1038/368154a0
1994

Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations
American Journal of Human Genetics
1994

Molecular and Genetic Studies of Human X Chromosome Inactivation
DOI: 10.1016/s1566-3116(08)60026-2
1993

The interleukin-2 receptor ¿ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
Human Molecular Genetics
1993

Molecular and genetic studies of human X chromosome in activation
Advances in Developmental Biology (1992)
1993

Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST
Human Molecular Genetics
1993

Evolutionary conservation of possible functional domains of the human and murine XIST genes
Human Molecular Genetics
1993

Epigenetic and chromosomal control of gene expression: Molecular and genetic analysis of X chromosome inactivation
Cold Spring Harbor Symposia on Quantitative Biology
1993

Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320470804
1993

2.6 Mb YAC contig of the human X inactivation center region in Xq13: Physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes
Human Molecular Genetics
1993

The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus
Cell
1992

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
Nature
DOI: 10.1038/353529a0
1991

The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene
Molecular and Cellular Endocrinology
DOI: 10.1016/0303-7207(91)90243-L
1991

Physical mapping of 60DNA markers in the p21.1 ¿ q21.3 region of the human X chromosome
Genomics
1991

Localization of the X inactivation centre on the human X chromosome in Xq13
Nature
DOI: 10.1038/349082a0
1991

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
Nature
1991

X chromosome inactivation of the human TIMP gene
Nucleic Acids Research
Carolyn J. Brown and Ann M. FIenniken and Bryan R.G. Williams and Huntington F. Willard
DOI: 10.1093/nar/18.14.4191
1990

X chromosome inactivation of the human TIMP gene
Nucleic Acids Research
1990

Localization of a gene that escapes inactivation to the X chromosome proximal short arm: Implications for X inactivation
American Journal of Human Genetics
1990

Androgen receptor locus on the human X chromosome: Regional localization to Xq11-12 and description of a DNA polymorphism
American Journal of Human Genetics
1989

Regional localization of CCG1 gene which complements hamster cell cycle mutation BN462 to Xq11-Xq13
Somatic Cell and Molecular Genetics
1989

Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect
American Journal of Human Genetics
1989

Gene on short arm of human X chromosome complements murine tsA1S9 DNA synthesis mutation
Somatic Cell and Molecular Genetics
1989

Genetic mapping of four DNA markers (DXS16, DXS43, DXS85, and DXS143) from the p22 region of the human X chromosome
Human Genetics
1988

MspI RFLP detected with chromosome-walk clone pXUT23-SE3.2L from DXS16 in Xp22.1-22.3
Nucleic Acids Research
DOI: 10.1093/nar/15.22.9614
1987

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses.
PubMed: 27857184


DOI: http://dx.doi.org/10.1186/1471-2156-6-48

Human X chromosome inactivation
DOI: http://dx.doi.org/10.1002/047001153x.g102201

Patchwork women
DOI: http://dx.doi.org/10.1038/ng0907-1043