Spermatogenic failure and the Y chromosome

Loss of maternalTrim28causes male-predominant early embryonic lethality

(2017) Abhishek Sampath Kumar et al.   GENES & DEVELOPMENT

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

RNAi as a tool to control the sex ratio of mouse offspring by interrupting Zfx/Zfy genes in the testis

(2017) YongSheng Zhang et al.   MAMMALIAN GENOME

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

(2017) Takashi Nakasuji et al.   PLoS Genetics

Discrimination of Deletion and Duplication Subtypes of the Deleted in Azoospermia Gene Family in the Context of Frequent Interloci Gene Conversion

(2016) Tibor Vaszkó et al.   PLoS One

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

(2016) Nadege Vernet et al.   PLoS One

Two genes substitute for the mouse Y chromosome for spermatogenesis and reproduction

(2016) Y. Yamauchi et al.   SCIENCE

Early programming of the oocyte epigenome temporally controls late prophase I transcription and chromatin remodelling

(2016) Paulo Navarro-Costa et al.   Nature Communications

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

Screening for AZFc Partial Deletions in Dravidian Men with Nonobstructive Azoospermia and Oligozoospermia

(2015) Vijayabhavanath Vijayakumaran Vijesh et al.   Genetic Testing and Molecular Biomarkers

DAZ Family Proteins, Key Players for Germ Cell Development

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

Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination

(2015) Bo Yang et al.   Scientific Reports

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

(2015) Cyril Ramathal et al.   Scientific Reports

De Novo Origin of VCY2 from Autosome to Y-Transposed Amplicon

(2015) Peng-Rong Cao et al.   PLoS One

Y Chromosome gr/gr Subdeletion Is Associated with Lower Semen Quality in Young Men from the General Japanese Population but Not in Fertile Japanese Men1

(2014) Youichi Sato et al.   BIOLOGY OF REPRODUCTION

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

(2014) Chris Armoskus et al.   BRAIN RESEARCH

Sequencing the Mouse Y Chromosome Reveals Convergent Gene Acquisition and Amplification on Both Sex Chromosomes

(2014) Y.Q. Shirleen Soh et al.   CELL

Dynamic patterns of histone H3 lysine 4 methyltransferases and demethylases during mouse preimplantation development

(2014) Gen-Bao Shao et al.   IN VITRO CELLULAR & DEVELOPMENTAL BIOLOGY-ANIMAL

DEAD-Box RNA helicases in animal gametogenesis

(2014) A. A. Kotov et al.   MOLECULAR BIOLOGY

DDX3X, the X homologue of AZFa gene DDX3Y, expresses a complex pattern of transcript variants only in the male germ line

(2014) Marc-Alexander Rauschendorf et al.   MOLECULAR HUMAN REPRODUCTION

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

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

Y Chromosome Haplogroup D2* Lineage Is Associated with Azoospermia in Japanese Males1

(2013) Youichi Sato et al.   BIOLOGY OF REPRODUCTION

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

(2013) Deborah Lo Giacco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

(2013) Amelia M. Lindgren et al.   HUMAN GENETICS

Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

(2013) C. Chianese et al.   HUMAN REPRODUCTION

DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations

(2013) Chuncheng Lu et al.   HUMAN REPRODUCTION

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

(2013) María C. Lardone et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China

(2013) Jun-jie Ye et al.   Journal of Zhejiang University-SCIENCE B

Two Y Genes Can Replace the Entire Y Chromosome for Assisted Reproduction in the Mouse

(2013) Yasuhiro Yamauchi et al.   SCIENCE

Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population

(2013) Quan Li et al.   WORLD JOURNAL OF UROLOGY

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

Sex, rebellion and decadence: The scandalous evolutionary history of the human Y chromosome

(2012) Paulo Navarro-Costa   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion

(2012) Abdelmajid Eloualid et al.   PLoS One

Impaired Spermatogenesis and gr/gr Deletions Related to Y Chromosome Haplogroups in Korean Men

(2012) Jin Choi et al.   PLoS One

High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males

(2012) Csilla Krausz et al.   PLoS One

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

Aberrations in Pseudoautosomal Regions (PARs) Found in Infertile Men with Y-Chromosome Microdeletions

(2011) Carolina J. Jorgez et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2011) Frank Tüttelmann et al.   PLoS One

Distinct Properties of the XY Pseudoautosomal Region Crucial for Male Meiosis

(2011) L. Kauppi et al.   SCIENCE

Divergent RNA-binding Proteins, DAZL and VASA, Induce Meiotic Progression in Human Germ Cells Derived in Vitro

(2011) Jose V. Medrano et al.   STEM CELLS

Partial Rescue of the KIT-Deficient Testicular Phenotype in KitW‑v/KitW‑v Tg(TSPY) Mice1

(2010) Anja Schöner et al.   BIOLOGY OF REPRODUCTION

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

Evidence that Meiotic Sex Chromosome Inactivation Is Essential for Male Fertility

(2010) Hélène Royo et al.   CURRENT BIOLOGY

Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions

(2010) Emilia Mateu 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

Features of constitutive gr/gr deletion in a Japanese population

(2010) H.-S. Sin et al.   HUMAN REPRODUCTION

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

Translational control of the AZFa gene DDX3Y by 5′UTR exon-T extension

(2010) L. Jaroszynski et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

Genetic Dissection of the AZF Regions of the Human Y Chromosome: Thriller or Filler for Male (In)fertility?

(2010) Paulo Navarro-Costa et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Epigenetic effects of polymorphic Y chromosomes modulate chromatin components, immune response, and sexual conflict

(2010) B. Lemos et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human DEAD-box protein 3 has multiple functions in gene regulation and cell cycle control and is a prime target for viral manipulation

(2009) Martina Schröder   BIOCHEMICAL PHARMACOLOGY

Gonadoblastoma locus and the TSPY gene on the human Y chromosome

(2009) Yun-Fai Chris Lau et al.   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS

Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes

(2009) Julian Lange et al.   CELL

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

(2009) Sinitdhorn Rujirabanjerd et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Y chromosome TSPY copy numbers and semen quality

(2009) Bita Nickkholgh et al.   FERTILITY AND STERILITY

Y chromosome gr/gr deletions are a risk factor for low semen quality

(2009) L. Visser et al.   HUMAN REPRODUCTION

Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population

(2009) Y. Yang et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

Human RBMY regulates germline-specific splicing events by modulating the function of the serine/arginine-rich proteins 9G8 and Tra2- 

(2009) N. Dreumont et al.   JOURNAL OF CELL SCIENCE

TSPY1Copy Number Variation Influences Spermatogenesis and Shows Differences among Y Lineages

(2009) Claudia Giachini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

RPS4Y gene family evolution in primates

(2008) Olga Andrés et al.   BMC EVOLUTIONARY BIOLOGY

Spermatogenesis-specific association of SMCY and MSH5

(2008) Chihiro Akimoto et al.   GENES TO CELLS

Partial AZFc deletions and duplications: clinical correlates in the Italian population

(2008) Claudia Giachini et al.   HUMAN GENETICS

The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population

(2008) C. Lu et al.   HUMAN MOLECULAR GENETICS

Dynamic nature of the proximalAZFcregion of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis

(2008) Patricia Balaresque et al.   HUMAN MUTATION

Y chromosome haplogroups may confer susceptibility to partial AZFc deletions and deletion effect on spermatogenesis impairment

(2008) Yuan Yang et al.   HUMAN REPRODUCTION

The AZF proteins

(2008) P. H. Vogt et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

An evolutionary perspective on Y-chromosomal variation and male infertility

(2008) Chris Tyler-Smith   INTERNATIONAL JOURNAL OF ANDROLOGY

Should I Stay or Should I Go? Eukaryotic Translation Initiation Factors 1 and 1A Control Start Codon Recognition

(2008) Sarah F. Mitchell et al.   JOURNAL OF BIOLOGICAL CHEMISTRY