Genetics and Epigenetics of the X and Y Chromosomes in the Sexual Differentiation of the Brain

Relative contributions of sex hormones, sex chromosomes, and gonads to sex differences in tissue gene regulation

(2022) Montgomery Blencowe et al.   GENOME RESEARCH

Gonadal hormones and sex chromosome complement differentially contribute to ethanol intake, preference, and relapse‐like behaviour in four core genotypes mice

(2022) Elizabeth A. Sneddon et al.   ADDICTION BIOLOGY

X chromosome agents of sexual differentiation

(2022) Arthur P. Arnold   Nature Reviews Endocrinology

X, but not Y, Chromosomal Complement Contributes to Stroke Sensitivity in Aged Animals

(2022) Shaohua Qi et al.   Translational Stroke Research

Aberrant cortical development is driven by impaired cell cycle and translational control in a DDX3X syndrome model

(2022) Mariah L Hoye et al.   eLife

Epigenetic modifier Kdm6a/Utx controls the specification of hypothalamic neuronal subtypes in a sex-dependent manner

(2022) Lucas E. Cabrera Zapata et al.   Frontiers in Cell and Developmental Biology

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

(2021) Víctor Faundes et al.   GENETICS IN MEDICINE

X chromosome escapee genes are involved in ischemic sexual dimorphism through epigenetic modification of inflammatory signals

(2021) Shaohua Qi et al.   Journal of Neuroinflammation

Evolutionary dynamics of the human pseudoautosomal regions

(2021) Bruno Monteiro et al.   PLoS Genetics

Prospective and detailed behavioral phenotyping in DDX3X syndrome

(2021) Lara Tang et al.   Molecular Autism

Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes‐Jensen syndrome

(2021) Hayden A. M. Hatch et al.   FEBS Journal

X-linked histone H3K27 demethylase Kdm6a regulates sexually dimorphic differentiation of hypothalamic neurons

(2021) Lucas E. Cabrera Zapata et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability

(2021) Po-Ming Wu et al.   Neurology-Genetics

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

(2020) Ashley L. Lennox et al.   NEURON

JMJD3 and UTX determine fidelity and lineage specification of human neural progenitor cells

(2020) Yongli Shan et al.   Nature Communications

Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome

(2020) Maria Jose Navarro‐Cobos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Role of PIWI-like 4 in modulating neuronal differentiation from human embryonal carcinoma cells

(2020) Charannya Sozheesvari Subhramanyam et al.   RNA Biology

Estradiol-dependent axogenesis and Ngn3 expression are determined by XY sex chromosome complement in hypothalamic neurons

(2020) Carla Daniela Cisternas et al.   Scientific Reports

DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma

(2020) Deanna M. Patmore et al.   DEVELOPMENTAL CELL

Lysine demethylase KDM6A in differentiation, development and cancer

(2020) Nhien Tran et al.   MOLECULAR AND CELLULAR BIOLOGY

UTX Regulates Human Neural Differentiation and Dendritic Morphology by Resolving Bivalent Promoters

(2020) Qing-Yuan Tang et al.   Stem Cell Reports

Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation

(2020) Christina N. Vallianatos et al.   Communications Biology

Brain Aromatase and the Regulation of Sexual Activity in Male Mice

(2020) David C Brooks et al.   ENDOCRINOLOGY

A second X chromosome contributes to resilience in a mouse model of Alzheimer’s disease

(2020) Emily J. Davis et al.   Science Translational Medicine

Four Core Genotypes and XY* mouse models: Update on impact on SABV research

(2020) Arthur P. Arnold   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

X-chromosome regulation and sex differences in brain anatomy

(2020) Armin Raznahan et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Differentiation of human pluripotent stem cells into neurons or cortical organoids requires transcriptional co-regulation by UTX and 53BP1

(2019) Xiaoyang Yang et al.   NATURE NEUROSCIENCE

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

(2019) Pantelis Nicola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Instability of the Pseudoautosomal Boundary in House Mice

(2019) Andrew P. Morgan et al.   GENETICS

Cognitive aging is not created equally: differentiating unique cognitive phenotypes in “normal” adults

(2019) Kaitlin B. Casaletto et al.   NEUROBIOLOGY OF AGING

Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression

(2019) Judith L. Ross et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

(2019) Elizabeth K. Ruzzo et al.   CELL

The X-linked histone demethylase Kdm6a in CD4+ T lymphocytes modulates autoimmunity

(2019) Yuichiro Itoh et al.   JOURNAL OF CLINICAL INVESTIGATION

Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early Development

(2019) Martin M. Johansson et al.   Frontiers in Genetics

Histone demethylases in neuronal differentiation, plasticity, and disease

(2019) Vijay Swahari et al.   CURRENT OPINION IN NEUROBIOLOGY

Sex, amyloid, and APOE ε4 and risk of cognitive decline in preclinical Alzheimer's disease: Findings from three well-characterized cohorts

(2018) Rachel F. Buckley et al.   Alzheimers & Dementia

Hormonal and genetic factors interact to control aromatase expression in the developing brain

(2018) C. D. Cisternas et al.   JOURNAL OF NEUROENDOCRINOLOGY

Sex-chromosome dosage effects on gene expression in humans

(2018) Armin Raznahan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

UTX Affects Neural Stem Cell Proliferation and Differentiation through PTEN Signaling

(2018) Xuepei Lei et al.   Stem Cell Reports

Testis development

(2018) Juho-Antti Mäkelä et al.   ENDOCRINE REVIEWS

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

(2018) Marco Garieri et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The RNA helicase DDX3X is an essential mediator of innate antimicrobial immunity

(2018) Daniel Szappanos et al.   PLoS Pathogens

Age-specific and sex-specific prevalence of cerebral β-amyloidosis, tauopathy, and neurodegeneration in cognitively unimpaired individuals aged 50–95 years: a cross-sectional study

(2017) Clifford R Jack et al.   LANCET NEUROLOGY

Sex chromosome complement involvement in angiotensin receptor sexual dimorphism

(2017) Florencia M. Dadam et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A UTX-MLL4-p300 Transcriptional Regulatory Network Coordinately Shapes Active Enhancer Landscapes for Eliciting Transcription

(2017) Shu-Ping Wang et al.   MOLECULAR CELL

Landscape of X chromosome inactivation across human tissues

(2017) Taru Tukiainen et al.   NATURE

The Histone H3K27 Demethylase UTX Regulates Synaptic Plasticity and Cognitive Behaviors in Mice

(2017) Gang-Bin Tang et al.   Frontiers in Molecular Neuroscience

Regulation of aromatase expression in the anterior amygdala of the developing mouse brain depends on ERβ and sex chromosome complement

(2017) Carla Daniela Cisternas et al.   Scientific Reports

The Biochemistry of O-GlcNAc Transferase: Which Functions Make It Essential in Mammalian Cells?

(2016) Zebulon G. Levine et al.   Annual Review of Biochemistry

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells

(2016) Gengze Wei et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Transition rates between amyloid and neurodegeneration biomarker states and to dementia: a population-based, longitudinal cohort study

(2016) Clifford R Jack et al.   LANCET NEUROLOGY

Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function

(2016) Arezu Jahani-Asl et al.   NEUROBIOLOGY OF DISEASE

Sex-specific silencing of X-linked genes by Xist RNA

(2016) Srimonta Gayen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders

(2016) Matthew A. Deardorff et al.   PROTEIN SCIENCE

X inactivation and reactivation in X-linked diseases

(2016) Marcella Vacca et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Escape Artists of the X Chromosome

(2016) Bradley P. Balaton et al.   TRENDS IN GENETICS

A primer on the use of mouse models for identifying direct sex chromosome effects that cause sex differences in non-gonadal tissues

(2016) Paul S. Burgoyne et al.   Biology of Sex Differences

Oestradiol synthesized by female neurons generates sex differences in neuritogenesis

(2016) Isabel Ruiz-Palmero et al.   Scientific Reports

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

(2015) Lot Snijders Blok et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Biology and Evolution of Mammalian Y Chromosomes

(2015) Jennifer F. Hughes et al.   Annual Review of Genetics

Kabuki syndrome genesKMT2DandKDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

(2015) Peter M. Van Laarhoven et al.   HUMAN MOLECULAR GENETICS

X-chromosome inactivation and escape

(2015) CHRISTINE M. DISTECHE et al.   JOURNAL OF GENETICS

Sex chromosome complement determines sex differences in aromatase expression and regulation in the stria terminalis and anterior amygdala of the developing mouse brain

(2015) Carla D. Cisternas et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Genetic conflict reflected in tissue-specific maps of genomic imprinting in human and mouse

(2015) Tomas Babak et al.   NATURE GENETICS

Evolution of vertebrate sex chromosomes and dosage compensation

(2015) Jennifer A. Marshall Graves   NATURE REVIEWS GENETICS

Escape from X Inactivation Varies in Mouse Tissues

(2015) Joel B. Berletch et al.   PLoS Genetics

Age, Sex, andAPOEε4 Effects on Memory, Brain Structure, and β-Amyloid Across the Adult Life Span

(2015) Clifford R. Jack et al.   JAMA Neurology

Variable escape from X-chromosome inactivation: Identifying factors that tip the scales towards expression

(2014) Samantha B. Peeters et al.   BIOESSAYS

Identification of sexually dimorphic genes in the neonatal mouse cortex and hippocampus

(2014) Chris Armoskus et al.   BRAIN RESEARCH

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature

(2014) Thainá Fernandez Gonçalves et al.   European Journal of Medical Genetics

Human UTY(KDM6C) Is a Male-specificNϵ-Methyl Lysyl Demethylase

(2014) Louise J. Walport et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

(2014) Daniel W. Bellott et al.   NATURE

Origins and functional evolution of Y chromosomes across mammals

(2014) Diego Cortez et al.   NATURE

Neurogenin 3 mediates sex chromosome effects on the generation of sex differences in hypothalamic neuronal development

(2014) María J. Scerbo et al.   Frontiers in Cellular Neuroscience

Fragile X syndrome: From protein function to therapy

(2013) Claudia Bagni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Effect of sex chromosome complement on sodium appetite and Fos-immunoreactivity induced by sodium depletion

(2013) Florencia M. Dadam et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

X-Inactivation, Imprinting, and Long Noncoding RNAs in Health and Disease

(2013) Jeannie T. Lee et al.   CELL

Conditional deletion of neurogenin-3 using Nkx2.1iCre results in a mouse model for the central control of feeding, activity and obesity

(2013) N. Anthwal et al.   Disease Models & Mechanisms

X-Linked Intellectual Disability-Associated Mutations in Synaptophysin Disrupt Synaptobrevin II Retrieval

(2013) S. L. Gordon et al.   JOURNAL OF NEUROSCIENCE

Independent specialization of the human and mouse X chromosomes for the male germ line

(2013) Jacob L Mueller et al.   NATURE GENETICS

Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis

(2013) Shane Stegeman et al.   PLoS One

X-linked microtubule-associated protein, Mid1, regulates axon development

(2013) T. Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA Helicase DDX3 Is a Regulatory Subunit of Casein Kinase 1 in Wnt- -Catenin Signaling

(2013) C.-M. Cruciat et al.   SCIENCE

Balancing of Histone H3K4 Methylation States by the Kdm5c/SMCX Histone Demethylase Modulates Promoter and Enhancer Function

(2013) Nikolay S. Outchkourov et al.   Cell Reports

Retinoic acid dependent histone 3 demethylation of the clustered HOX genes during neural differentiation of human embryonic stem cells

(2012) Maryam Shahhoseini et al.   Biochemistry and Cell Biology

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

Histone Demethylase UTX and Chromatin Remodeler BRM Bind Directly to CBP and Modulate Acetylation of Histone H3 Lysine 27

(2012) F. Tie et al.   MOLECULAR AND CELLULAR BIOLOGY

UTX regulates mesoderm differentiation of embryonic stem cells independent of H3K27 demethylase activity

(2012) C. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner

(2012) G. G. Welstead et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

UTX and UTY Demonstrate Histone Demethylase-Independent Function in Mouse Embryonic Development

(2012) Karl B. Shpargel et al.   PLoS Genetics

Escape from X inactivation in mice and humans

(2012) Joel B Berletch et al.   GENOME BIOLOGY

Genetics and epigenetics of the X chromosome

(2011) Céline Morey et al.   Annals of the New York Academy of Sciences

Sexual differentiation of the human brain: Relation to gender identity, sexual orientation and neuropsychiatric disorders

(2011) Ai-Min Bao et al.   FRONTIERS IN NEUROENDOCRINOLOGY

Sex Chromosome Complement Contributes to Sex Differences in Bradycardic Baroreflex Response

(2011) Ximena E. Caeiro et al.   HYPERTENSION

Stroke risk in women: the role of menopause and hormone therapy

(2011) Lynda Lisabeth et al.   LANCET NEUROLOGY

Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster

(2011) Xinxian Deng et al.   NATURE GENETICS

Reframing sexual differentiation of the brain

(2011) Margaret M McCarthy et al.   NATURE NEUROSCIENCE

Structural basis for MOF and MSL3 recruitment into the dosage compensation complex by MSL1

(2011) Jan Kadlec et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A Motif Unique to the Human Dead-Box Protein DDX3 Is Important for Nucleic Acid Binding, ATP Hydrolysis, RNA/DNA Unwinding and HIV-1 Replication

(2011) Anna Garbelli et al.   PLoS One

Epigenetic regulation of autosomal gene expression by sex chromosomes

(2011) Patrick J. Wijchers et al.   TRENDS IN GENETICS

Emerging role of the MORF/MRG gene family in various biological processes, including aging

(2010) Meizhen Chen et al.   Annals of the New York Academy of Sciences

Differential requirements for neurogenin 3 in the development of POMC and NPY neurons in the hypothalamus

(2010) Michelle Pelling et al.   DEVELOPMENTAL BIOLOGY

Sexual Dimorphism in Mammalian Autosomal Gene Regulation Is Determined Not Only by Sry but by Sex Chromosome Complement As Well

(2010) Patrick J. Wijchers et al.   DEVELOPMENTAL CELL

Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition

(2010) Daniel W. Bellott et al.   NATURE

Sex determines the expression level of one third of the actively expressed genes in bovine blastocysts

(2010) P. Bermejo-Alvarez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

XLMR genes: update 2007

(2008) Pietro Chiurazzi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A role for sex chromosome complement in the female bias in autoimmune disease

(2008) Deborah L. Smith-Bouvier et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Sex-Specific Differences in Expression of Histone Demethylases Utx and Uty in Mouse Brain and Neurons

(2008) J. Xu et al.   JOURNAL OF NEUROSCIENCE

Sexual differentiation of the rodent hypothalamus: Hormonal and environmental influences

(2008) Paola Negri-Cesi et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Estradiol and the Developing Brain

(2008) MARGARET M. McCARTHY   PHYSIOLOGICAL REVIEWS

Sex difference in neural tube defects inp53-null mice is caused by differences in the complement of X not Y genes

(2007) Xuqi Chen et al.   Developmental Neurobiology

Sex chromosome complement affects nociception in tests of acute and chronic exposure to morphine in mice

(2007) Laura Gioiosa et al.   HORMONES AND BEHAVIOR