- Overview
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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
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Beyond sequence homology: Cellular biology limits the potential of XIST to act as a miRNA sponge
PLOS ONE
Erin A. Marshall and Greg L. Stewart and Adam P. Sage and Wan L. Lam and Carolyn J. Brown
DOI: 10.1371/journal.pone.0221371
08/2019How 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
03/2019The 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
08/2018Human 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
02/2018Impact of flanking chromosomal sequences on localization and silencing by the human non-coding RNA XIST
Genome Biology
Angela D. Kelsey and Christine Yang and Danny Leung and Jakub Minks and Thomas Dixon-McDougall and Sarah E.L. Baldry and Aaron B. Bogutz and Louis Lefebvre and Carolyn J. Brown
DOI: 10.1186/s13059-015-0774-2
12/2015Landscape 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
2015Unique somatic and malignant expression patterns implicate PIWI-interacting RNAs in cancer-type specific biology
Scientific Reports
DOI: 10.1038/srep10423
2015Variable 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
06/2014Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome
Genome Biol
DOI: 10.1186/gb-2013-14-11-r122
2013Translating dosage compensation to trisomy 21
DOI: 10.1038/nature12394
2013XIST-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
2013Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array
Epigenetics and Chromatin
DOI: 10.1186/1756-8935-6-4
2013DNA 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
2013EYA4 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
2013Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains
Hum Mol Genet
DOI: 10.1093/hmg/ddt513
2013Patterns 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
2012Targeting 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
2012Epigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action
DOI: 10.1203/pdr.0b013e318213565e
2011X-chromosome inactivation: Molecular mechanisms from the human perspective
Human Genetics
DOI: 10.1007/s00439-011-0994-9
2011The functional role of long non-coding RNA in human carcinomas
Molecular Cancer
DOI: 10.1186/1476-4598-10-38
2011S100B 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
2011Human cancer long non-coding RNA transcriptomes
PLoS ONE
DOI: 10.1371/journal.pone.0025915
2011Epigenetic impacts on neurodevelopment: Pathophysiological mechanisms and genetic modes of action
Pediatric Research
DOI: 10.1203/PDR.0b013e318213565e
2011Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation
Human Genetics
DOI: 10.1007/s00439-011-1007-8
2011Acquired TNFRSF14 mutations in follicular lymphoma are associated with worse prognosis
Cancer Research
DOI: 10.1158/0008-5472.CAN-10-2460
2010Identification of regulatory elements flanking human XIST reveals species differences
BMC Molecular Biology
DOI: 10.1186/1471-2199-11-20
2010Active 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
2010Methylated DNA Immunoprecipitation
DOI: 10.3791/935
2009Methylated DNA immunoprecipitation.
Journal of visualized experiments : JoVE
2009Inactive X chromosome-specific reduction in placental DNA methylation
Human Molecular Genetics
DOI: 10.1093/hmg/ddp299
2009Getting to the center of X-chromosome inactivation: The role of transgenes
Biochemistry and Cell Biology
DOI: 10.1139/O09-040
2009Erratum: X chromosome inactivation: Heterogeneity of heterochromatin (Biochem. Cell. Biol (2008) 86 (370-379))
Biochemistry and Cell Biology
DOI: 10.1139/O08-146
2009A skewed view of X chromosome inactivation
DOI: 10.1172/jci34470
2008X chromosome inactivation: Heterogeneity of heterochromatin
Biochemistry and Cell Biology
DOI: 10.1139/O08-100
2008Prognostic significance of secondary cytogenetic alterations in follicular lymphomas
Genes Chromosomes and Cancer
DOI: 10.1002/gcc.20606
2008Epigenetics of cancer progression
Pharmacogenomics
DOI: 10.2217/14622416.9.2.215
2008Correction: BCoR-L1 variation and breast cancer
Breast Cancer Research
DOI: 10.1186/bcr2153
2008A skewed view of X chromosome inactivation
Journal of Clinical Investigation
DOI: 10.1172/JCI34470
2008Comparative Cancer Epigenomics
DOI: 10.1201/9781420008876.ch14
2007Patchwork women
DOI: 10.1038/ng0907-1043
2007Skewed 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
2007Reply to Dr. Robert A. Hegele [2]
American Journal of Human Genetics
DOI: 10.1086/521416
2007Inducible 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
2007BCoR-L1 variation and breast cancer
Breast Cancer Research
DOI: 10.1186/bcr1759
2007A cross-species comparison of X-chromosome inactivation in Eutheria
Genomics
DOI: 10.1016/j.ygeno.2007.07.002
2007A comprehensive analysis of common copy-number variations in the human genome
American Journal of Human Genetics
DOI: 10.1086/510560
2007Epigenomics: Mapping the methylome
Cell Cycle
2006Mechanisms of X-chromosome inactivation
Frontiers in Bioscience
DOI: 10.2741/1842
2006Human 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
2005Silencing of the mammalian X chromosome
Annual Review of Genomics and Human Genetics
DOI: 10.1146/annurev.genom.6.080604.162350
2005Investigations 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
2005A 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
2004The dynamics of X-inactivation skewing as women age
Clinical Genetics
DOI: 10.1111/j.1399-0004.2004.00310.x
2004A stain upon the silence: genes escaping X inactivation
DOI: 10.1016/s0168-9525(03)00177-x
2003X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case
American Journal of Medical Genetics
2003Skewed 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
2003Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns [2]
American Journal of Medical Genetics
2003Forming facultative heterochromatin: Silencing of an X chromosome in mammalian females
Cellular and Molecular Life Sciences
DOI: 10.1007/s00018-003-3121-9
2003Characterization of expression at the human XIST locus in somatic, embryonal carcinoma, and transgenic cell lines
Genomics
DOI: 10.1016/S0888-7543(03)00170-8
2003Beyond sense: The role of antisense RNA in controlling Xist expression
Seminars in Cell and Developmental Biology
DOI: 10.1016/j.semcdb.2003.09.013
2003A stain upon the silence: Genes escaping X inactivation
Trends in Genetics
DOI: 10.1016/S0168-9525(03)00177-X
2003Variability of X chromosome inactivation: effect on levels of TIMP1 RNA and role of DNA methylation
DOI: 10.1007/s00439-002-0676-8
2002Relationship of XIST expression and responses of ovarian cancer to chemotherapy.
Molecular cancer therapeutics
2002Lack 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
2002Ectopic XIST transcripts in human somatic cells show variable expression and localization
Cytogenetic and Genome Research
DOI: 10.1159/000071579
2002Biology of the X chromosome: Molecular and clinical correlates
Seminars in Reproductive Medicine
2001X chromosome-specific cDNA arrays: Identification of genes that escape from X-inactivation and other applications
Human Molecular Genetics
2001Unravelling the complex genetics of cleft lip in the mouse model
Mammalian Genome
DOI: 10.1007/s003350010284
2001Skewed X inactivation and recurrent spontaneous abortion
Seminars in Reproductive Medicine
DOI: 10.1055/s-2001-15397
2001Equality of the sexes: Mammalian dosage compensation
Seminars in Reproductive Medicine
DOI: 10.1055/s-2001-15392
2001Determination of X-Chromosome Inactivation Status Using X-Linked Expressed Polymorphisms Identified by Database Searching
DOI: 10.1006/geno.2000.6153
2000The causes and consequences of random and non-random X chromosome inactivation in humans
Clinical Genetics
DOI: 10.1034/j.1399-0004.2000.580504.x
2000Involvement of the X chromosome in non-Hodgkin lymphoma
Genes Chromosomes and Cancer
2000An 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
2000Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion [2]
American Journal of Human Genetics
DOI: 10.1086/302552
1999Skewed X-chromosome inactivation: Cause or consequence
Journal of the National Cancer Institute
1999Polymorphic X-chromosome inactivation of the human TIMP1 gene
American Journal of Human Genetics
DOI: 10.1086/302556
1999Induction 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
1998Stabilization 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
1998Expression of genes from the human active and inactive X chromosomes
American Journal of Human Genetics
1997XIST expression and X-chromosome inactivation in human preimplantation embryos
American Journal of Human Genetics
1997Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism
American Journal of Human Genetics
DOI: 10.1086/301651
1997Evidence that heteronuclear proteins interact with the XIST RNA in vitro
Somatic Cell and Molecular Genetics
DOI: 10.1007/BF02369896
1996Role of the X chromosome in cancer.
Journal of the National Cancer Institute
1996Direct detection of non-random X chromosome inactivation by use of a transcribed polymorphism in the XIST gene
European Journal of Human Genetics
1995The DXS423E gene in Xp11.21 escapes X chromosome inactivation
Human Molecular Genetics
1995Identification of a PIG-A related processed gene on chromosome 12
Human Genetics
DOI: 10.1007/BF00209489
1995The human X-inactivation centre is not required for maintenance of X-chromosome inactivation
DOI: 10.1038/368154a0
1994Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations
American Journal of Human Genetics
1994Molecular and Genetic Studies of Human X Chromosome Inactivation
DOI: 10.1016/s1566-3116(08)60026-2
1993The interleukin-2 receptor ¿ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
Human Molecular Genetics
1993Molecular and genetic studies of human X chromosome in activation
Advances in Developmental Biology (1992)
1993Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST
Human Molecular Genetics
1993Evolutionary conservation of possible functional domains of the human and murine XIST genes
Human Molecular Genetics
1993Epigenetic and chromosomal control of gene expression: Molecular and genetic analysis of X chromosome inactivation
Cold Spring Harbor Symposia on Quantitative Biology
1993Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320470804
19932.6 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
1993The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus
Cell
1992A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
Nature
DOI: 10.1038/353529a0
1991The 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
1991Physical mapping of 60DNA markers in the p21.1 ¿ q21.3 region of the human X chromosome
Genomics
1991Localization of the X inactivation centre on the human X chromosome in Xq13
Nature
DOI: 10.1038/349082a0
1991A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
Nature
1991X 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
1990X chromosome inactivation of the human TIMP gene
Nucleic Acids Research
1990Localization of a gene that escapes inactivation to the X chromosome proximal short arm: Implications for X inactivation
American Journal of Human Genetics
1990Androgen receptor locus on the human X chromosome: Regional localization to Xq11-12 and description of a DNA polymorphism
American Journal of Human Genetics
1989Regional localization of CCG1 gene which complements hamster cell cycle mutation BN462 to Xq11-Xq13
Somatic Cell and Molecular Genetics
1989Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect
American Journal of Human Genetics
1989Gene on short arm of human X chromosome complements murine tsA1S9 DNA synthesis mutation
Somatic Cell and Molecular Genetics
1989Genetic mapping of four DNA markers (DXS16, DXS43, DXS85, and DXS143) from the p22 region of the human X chromosome
Human Genetics
1988MspI 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
1987YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses.
PubMed: 27857184
DOI: http://dx.doi.org/10.1186/1471-2156-6-48Human X chromosome inactivation
DOI: http://dx.doi.org/10.1002/047001153x.g102201Patchwork women
DOI: http://dx.doi.org/10.1038/ng0907-1043
Congratulations CIHR Project Grant Recipients!
We are pleased to congratulate the BC Children's and BC Women's investigators who were awarded funding through the highly competitive Canadian Institutes of Health Research (CIHR) Project Grant Fall 2018 competition.
