Testis development

JA Mäkelä, JJ Koskenniemi, HE Virtanen… - Endocrine …, 2019 - academic.oup.com
Production of sperm and androgens is the main function of the testis. This depends on
normal development of both testicular somatic cells and germ cells. A genetic program …

[HTML][HTML] Genetics of azoospermia

F Cioppi, V Rosta, C Krausz - International Journal of Molecular Sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

Origins and functional evolution of Y chromosomes across mammals

D Cortez, R Marin, D Toledo-Flores, L Froidevaux… - Nature, 2014 - nature.com
Y chromosomes underlie sex determination in mammals, but their repeat-rich nature has
hampered sequencing and associated evolutionary studies. Here we trace Y evolution …

A systematic review and standardized clinical validity assessment of male infertility genes

MS Oud, L Volozonoka, RM Smits… - Human …, 2019 - academic.oup.com
STUDY QUESTION Which genes are confidently linked to human monogenic male
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …

[HTML][HTML] Co-option of Sox3 as the male-determining factor on the Y chromosome in the fish Oryzias dancena

Y Takehana, M Matsuda, T Myosho, ML Suster… - Nature …, 2014 - nature.com
Sex chromosomes harbour a primary sex-determining signal that triggers sexual
development of the organism. However, diverse sex chromosome systems have been …

Genetics of combined pituitary hormone deficiency: roadmap into the genome era

Q Fang, AS George, ML Brinkmeier… - Endocrine …, 2016 - academic.oup.com
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …

Diverse and variable sex determination mechanisms in vertebrates

XY Li, JF Gui - Science China Life Sciences, 2018 - Springer
Sex is prevalent in nature and sex determination is one of the most fundamental biological
processes, while the way of initiating female and male development exhibits remarkable …

Plasticity of gene‐regulatory networks controlling sex determination: of masters, slaves, usual suspects, newcomers, and usurpators

A Herpin, M Schartl - EMBO reports, 2015 - embopress.org
Sexual dimorphism is one of the most pervasive and diverse features of animal morphology,
physiology, and behavior. Despite the generality of the phenomenon itself, the mechanisms …

Genetic regulation of mammalian gonad development

S Eggers, T Ohnesorg, A Sinclair - Nature Reviews Endocrinology, 2014 - nature.com
Sex-specific gonadal development starts with formation of the bipotential gonad, which then
differentiates into either a mature testis or an ovary. This process is dependent on activation …

Novel sex‐determining genes in fish and sex chromosome evolution

K Kikuchi, S Hamaguchi - Developmental Dynamics, 2013 - Wiley Online Library
Although the molecular mechanisms underlying many developmental events are conserved
across vertebrate taxa, the lability at the top of the sex‐determining (SD) cascade has been …