Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice

SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …

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

S Colaco, D Modi - Reproductive biology and endocrinology, 2018 - Springer
The human Y chromosome harbors genes that are responsible for testis development and
also for initiation and maintenance of spermatogenesis in adulthood. The long arm of the Y …

Building the mammalian testis: origins, differentiation, and assembly of the component cell populations

T Svingen, P Koopman - Genes & development, 2013 - genesdev.cshlp.org
Development of testes in the mammalian embryo requires the formation and assembly of
several cell types that allow these organs to achieve their roles in male reproduction and …

Sertoli cells maintain Leydig cell number and peritubular myoid cell activity in the adult mouse testis

D Rebourcet, PJ O'Shaughnessy, A Monteiro, L Milne… - PloS one, 2014 - journals.plos.org
The Sertoli cells are critical regulators of testis differentiation and development. In the adult,
however, their known function is restricted largely to maintenance of spermatogenesis. To …

The biology and evolution of mammalian Y chromosomes

JF Hughes, DC Page - Annual review of genetics, 2015 - annualreviews.org
Mammals have the oldest sex chromosome system known: the mammalian X and Y
chromosomes evolved from ordinary autosomes beginning at least 180 million years ago …

Dosage compensation in mammals

N Brockdorff, BM Turner - Cold Spring Harbor …, 2015 - cshperspectives.cshlp.org
Many organisms show major chromosomal differences between sexes. In mammals,
females have two copies of a large, gene-rich chromosome, the X, whereas males have one …

Sertoli cells control peritubular myoid cell fate and support adult Leydig cell development in the prepubertal testis

D Rebourcet, PJ O'Shaughnessy, JL Pitetti… - …, 2014 - journals.biologists.com
Sertoli cells (SCs) regulate testicular fate in the differentiating gonad and are the main
regulators of spermatogenesis in the adult testis; however, their role during the intervening …

Disorders of sex development with testicular differentiation in SRY-negative 46, XX individuals: clinical and genetic aspects

RP Grinspon, RA Rey - Sexual Development, 2016 - karger.com
Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from
congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare …

SOXopathies: growing family of developmental disorders due to SOX mutations

M Angelozzi, V Lefebvre - Trends in Genetics, 2019 - cell.com
The SRY-related (SOX) transcription factor family pivotally contributes to determining cell
fate and identity in many lineages. Since the original discovery that SRY deletions cause sex …

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

A Bashamboo, R Brauner… - Human molecular …, 2014 - academic.oup.com
In recent years, considerable advances have been made in our understanding of genetics of
mammalian gonad development; however, the underlying genetic aetiology in the majority …