Genetics of the human Y chromosome and its association with male infertility

Spermatogenic phenotype of testis-specific protein, Y-encoded, 1 (TSPY1) dosage deficiency is independent of variations in TSPY-like 1 (TSPYL1) and TSPY-like 5 (TSPYL5): a case-control study in a Han Chinese population

(2018) Xiling Yang et al.   REPRODUCTION FERTILITY AND DEVELOPMENT

The Y chromosome: a blueprint for men’s health?

(2017) Akhlaq A Maan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Spermatogenic failure and the Y chromosome

(2017) C. Krausz et al.   HUMAN GENETICS

The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants

(2017) Yunmin Li et al.   HUMAN MOLECULAR GENETICS

Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function

(2017) A. Castro et al.   HUMAN REPRODUCTION

Copy number variation of functional RBMY1 is associated with sperm motility: an azoospermia factor-linked candidate for asthenozoospermia

(2017) Yuanlong Yan et al.   HUMAN REPRODUCTION

Y Chromosome Missing Protein, TBL1Y, May Play an Important Role in Cardiac Differentiation

(2017) Anna Meyfour et al.   JOURNAL OF PROTEOME RESEARCH

Chromosome-Centric Human Proteome Project Allies with Developmental Biology: A Case Study of the Role of Y Chromosome Genes in Organ Development

(2017) Anna Meyfour et al.   JOURNAL OF PROTEOME RESEARCH

Sry and SoxE genes: How they participate in mammalian sex determination and gonadal development?

(2017) Zhen-Yu She et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Progress in understanding the molecular functions of DDX3Y (DBY) in male germ cell development and maintenance

(2017) Alexei A. Kotov et al.   BioScience Trends

High frequency of de novo DAZ microdeletion in sperm nuclei of subfertile men: possible involvement of genome instability in idiopathic male infertility

(2017) Hossein Mozdarani et al.   Human Fertility

Complementary Critical Functions of Zfy1 and Zfy2 in Mouse Spermatogenesis and Reproduction

(2017) Takashi Nakasuji et al.   PLoS Genetics

Copy number variations in testicular maturation arrest

(2017) A. Halder et al.   Andrology

Are AZFb deletions always incompatible with sperm production?

(2017) K. Stouffs et al.   Andrology

Analysis of partial azoospermia factor c deletion andDAZcopy number in azoospermia and severe oligozoospermia

(2016) L. Alimardanian et al.   ANDROLOGIA

Outcomes of intracytoplasmic sperm injection in oligozoospermic men with Y chromosome AZFb or AZFc microdeletions

(2016) X.-Y. Liu et al.   ANDROLOGIA

Recent advances in the genetics of testicular failure

(2016) DoloresJ Lamb et al.   ASIAN JOURNAL OF ANDROLOGY

JARID1D Is a Suppressor and Prognostic Marker of Prostate Cancer Invasion and Metastasis

(2016) N. Li et al.   CANCER RESEARCH

Expression pattern of HSFY in the mouse testis and epididymis with and without heat stress

(2016) Weiyi Zhang et al.   CELL AND TISSUE RESEARCH

Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence

(2016) He Huang et al.   CLINICAL ENDOCRINOLOGY

Of sex and determination: marking 25 years of Randy, the sex-reversed mouse

(2016) Peter Koopman et al.   DEVELOPMENT

gr/gr- DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population

(2016) Myriam Ghorbel et al.   GENE

Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review

(2016) Sandeep Kumar Bansal et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Mouse Y-Encoded Transcription Factor Zfy2 Is Essential for Sperm Head Remodelling and Sperm Tail Development

(2016) Nadege Vernet et al.   PLoS One

Resistance to docetaxel in prostate cancer is associated with androgen receptor activation and loss of KDM5D expression

(2016) Kazumasa Komura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletion of GOLGA2P3Y but not GOLGA2P2Y is a risk factor for oligozoospermia

(2016) Sanjukta Sen et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Identification of an NKX3.1-G9a-UTY transcriptional regulatory network that controls prostate differentiation

(2016) A. Dutta et al.   SCIENCE

Identification of nondiabetic heart failure-associated genes by bioinformatics approaches in patients with dilated ischemic cardiomyopathy

(2016) ANZHONG YU et al.   Experimental and Therapeutic Medicine

Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses and trial sequential analyses

(2016) Sandeep Kumar Bansal et al.   Scientific Reports

Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development

(2016) Martin M. Johansson et al.   Biology of Sex Differences

The Biology and Evolution of Mammalian Y Chromosomes

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

High mobility group protein-mediated transcription requires DNA damage marker γ-H2AX

(2015) Indrabahadur Singh et al.   CELL RESEARCH

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

(2015) Y. Dong et al.   GENETICS AND MOLECULAR RESEARCH

Copy number variation in the human Y chromosome in the UK population

(2015) Wei Wei et al.   HUMAN GENETICS

DAZ Family Proteins, Key Players for Germ Cell Development

(2015) Xia-Fei Fu et al.   International Journal of Biological Sciences

Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions

(2015) S. Sen et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Isoform-Level Gene Expression Profiles of Human Y Chromosome Azoospermia Factor Genes and Their X Chromosome Paralogs in the Testicular Tissue of Non-Obstructive Azoospermia Patients

(2015) Diba Ahmadi Rastegar et al.   JOURNAL OF PROTEOME RESEARCH

Bioinformatics Annotation of Human Y Chromosome-Encoded Protein Pathways and Interactions

(2015) Deivendran Rengaraj et al.   JOURNAL OF PROTEOME RESEARCH

A unique view on male infertility around the globe

(2015) Ashok Agarwal et al.   Reproductive Biology and Endocrinology

Pathogenesis of germ cell neoplasia in testicular dysgenesis and disorders of sex development

(2015) Anne Jørgensen et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Clinical utility of a novel urine-based gene fusion TTTY15-USP9Y in predicting prostate biopsy outcome

(2015) Yasheng Zhu et al.   UROLOGIC ONCOLOGY-SEMINARS AND ORIGINAL INVESTIGATIONS

DDX3Y gene rescue of a Y chromosome AZFa deletion restores germ cell formation and transcriptional programs

(2015) Cyril Ramathal et al.   Scientific Reports

Mouse Y-Encoded Transcription Factor Zfy2 Is Essential for Sperm Formation and Function in Assisted Fertilization

(2015) Yasuhiro Yamauchi et al.   PLoS Genetics

Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men

(2014) Myriam Ghorbel et al.   GENE

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

(2014) Eisa Tahmasbpour et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

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

The Y chromosome-linked copy number variations and male fertility

(2014) C. Krausz et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment

(2014) Chuncheng Lu et al.   MOLECULAR HUMAN REPRODUCTION

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

(2014) Daniel W. Bellott et al.   NATURE

High-Throughput Screening for Spermatogenesis Candidate Genes in the AZFc Region of the Y Chromosome by Multiplex Real Time PCR Followed by High Resolution Melting Analysis

(2014) Evguenia Alechine et al.   PLoS One

Mouse Y-Linked Zfy1 and Zfy2 Are Expressed during the Male-Specific Interphase between Meiosis I and Meiosis II and Promote the 2nd Meiotic Division

(2014) Nadège Vernet et al.   PLoS Genetics

Recombination in the Human Pseudoautosomal Region PAR1

(2014) Anjali G. Hinch et al.   PLoS Genetics

Clinical genetic testing for male factor infertility: current applications and future directions

(2014) J. Hotaling et al.   Andrology

The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modernHomo sapiens

(2013) Thomas H. Priddle et al.   Annals of the New York Academy of Sciences

Copy number variation-based polymorphism in a new pseudoautosomal region 3 (PAR3) of a human X-chromosome-transposed region (XTR) in the Y chromosome

(2013) Avinash M. Veerappa et al.   FUNCTIONAL & INTEGRATIVE GENOMICS

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

(2013) S. Sen et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

(2013) Alexandra M. Lopes et al.   PLoS Genetics

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013

(2013) C. Krausz et al.   Andrology

AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y Chromosomes

(2012) Steven G. Rozen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

(2012) Peter J Stahl et al.   ASIAN JOURNAL OF ANDROLOGY

European Association of Urology Guidelines on Male Infertility: The 2012 Update

(2012) Andreas Jungwirth et al.   EUROPEAN UROLOGY

Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?

(2012) Sandra E. Kleiman et al.   FERTILITY AND STERILITY

AZFb microdeletions and oligozoospermia—which mechanisms?

(2012) Ana Rita Soares et al.   FERTILITY AND STERILITY

Y Chromosome Gene Expression in the Blood of Male Patients With Ischemic Stroke Compared With Male Controls

(2012) Yingfang Tian et al.   Gender Medicine

Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential

(2012) Fanny Decarpentrie et al.   HUMAN MOLECULAR GENETICS

AZFa protein DDX3Y is differentially expressed in human male germ cells during development and in testicular tumours: new evidence for phenotypic plasticity of germ cells

(2012) B. Gueler et al.   HUMAN REPRODUCTION

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

(2012) Li Fu et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Cellular ontogeny of RBMY during human spermatogenesis and its role in sperm motility

(2012) Shadaan Abid et al.   JOURNAL OF BIOSCIENCES

A Fresh Look at the Male-specific Region of the Human Y Chromosome

(2012) Zohreh Jangravi et al.   JOURNAL OF PROTEOME RESEARCH

The Molecular Genetics of Sex Determination and Sex Reversal in Mammals

(2012) Alexander Quinn et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair

(2011) Marsha D. Speevak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Genetic causes of spermatogenic failure

(2011) Annelien Massart et al.   ASIAN JOURNAL OF ANDROLOGY

The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994–2010)

(2011) Sandra E. Kleiman et al.   FERTILITY AND STERILITY

Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count

(2011) Michiel J. Noordam et al.   HUMAN MOLECULAR GENETICS

HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation

(2011) Elsa Kichine et al.   HUMAN REPRODUCTION

A rare Y chromosome constitutional rearrangement: a partial AZFb deletion and duplication within chromosome Yp in an infertile man with severe oligoasthenoteratozoospermia

(2011) Y.-C. Shi et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

Identifying mRNAs Bound by Human RBMY Protein in the Testis

(2011) Mei ZENG et al.   JOURNAL OF REPRODUCTION AND DEVELOPMENT

Huge Splicing Frequency in Human Y Chromosomal UTY Gene

(2011) Ingeborg Laaser et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

(2011) Frank Tüttelmann et al.   PLoS One

Male Germ Cell-Specific RNA Binding Protein RBMY: A New Oncogene Explaining Male Predominance in Liver Cancer

(2011) Daw-Jen Tsuei et al.   PLoS One

Distinct Properties of the XY Pseudoautosomal Region Crucial for Male Meiosis

(2011) L. Kauppi et al.   SCIENCE

The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis

(2010) Alexandra M Lopes et al.   BMC MOLECULAR BIOLOGY

Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

(2010) Mohammad Shahid et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions

(2010) Emilia Mateu et al.   FERTILITY AND STERILITY

The genetic causes of male factor infertility: A review

(2010) Katherine L. O'Flynn O'Brien et al.   FERTILITY AND STERILITY

Transmissible microdeletion of the Y-chromosome encompassing two DAZ copies, four RBMY1 copies, and both PRY copies

(2010) Ingrid Plotton et al.   FERTILITY AND STERILITY

What about gr/gr deletions and male infertility? Systematic review and meta-analysis

(2010) Katrien Stouffs et al.   HUMAN REPRODUCTION UPDATE

The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility

(2010) P. Navarro-Costa et al.   HUMAN REPRODUCTION UPDATE

DDX3 Regulates Cell Growth through Translational Control of Cyclin E1

(2010) M.-C. Lai et al.   MOLECULAR AND CELLULAR BIOLOGY

Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience

(2010) Manuela Simoni et al.   REPRODUCTIVE BIOMEDICINE ONLINE

TSPY and Male Fertility

(2010) Csilla Krausz et al.   Genes

Polymorphic expression of DAZ proteins in the human testis

(2009) Byunghyuk Kim et al.   HUMAN REPRODUCTION

Thymosin beta 4 enhances NK cell cytotoxicity mediated by ICAM-1

(2009) Ha-reum Lee et al.   IMMUNOLOGY LETTERS

Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation

(2009) Kehkooi Kee et al.   NATURE

Spermatogenesis in a Man with Complete Deletion ofUSP9Y

(2009) Alice Luddi et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Will-o'-the-Wisp of Genetics — Hunting for the Azoospermia Factor Gene

(2009) Chris Tyler-Smith et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Variants of Y Chromosome Are Associated With a Protective Lipid Profile in Black Men

(2008) Paola Russo et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

RPS4Y gene family evolution in primates

(2008) Olga Andrés et al.   BMC EVOLUTIONARY BIOLOGY

Y-chromosome AZFc structural architecture and relationship to male fertility

(2008) Celia Ravel et al.   FERTILITY AND STERILITY

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

(2008) Shadaan Abid et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Identification of new breakpoints in AZFb and AZFc

(2008) Paula Costa et al.   MOLECULAR HUMAN REPRODUCTION

ATM Promotes the Obligate XY Crossover and both Crossover Control and Chromosome Axis Integrity on Autosomes

(2008) Marco Barchi et al.   PLoS Genetics