Long-range enhancer–promoter contacts in gene expression control

S Schoenfelder, P Fraser - Nature Reviews Genetics, 2019 - nature.com
Spatiotemporal gene expression programmes are orchestrated by transcriptional
enhancers, which are key regulatory DNA elements that engage in physical contacts with …

Sex determination, gonadal sex differentiation, and plasticity in vertebrate species

Y Nagahama, T Chakraborty… - Physiological …, 2021 - journals.physiology.org
A diverse array of sex determination (SD) mechanisms, encompassing environmental to
genetic, have been found to exist among vertebrates, covering a spectrum from fixed SD …

Sex reversal following deletion of a single distal enhancer of Sox9

N Gonen, CR Futtner, S Wood, SA Garcia-Moreno… - Science, 2018 - science.org
Cell fate decisions require appropriate regulation of key genes. Sox9, a direct target of SRY,
is pivotal in mammalian sex determination. In vivo high-throughput chromatin accessibility …

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

B Croft, T Ohnesorg, J Hewitt, J Bowles, A Quinn… - Nature …, 2018 - nature.com
Disorders of sex development (DSDs) are conditions affecting development of the gonads or
genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of …

Turnover of mammal sex chromosomes in the Sry-deficient Amami spiny rat is due to male-specific upregulation of Sox9

M Terao, Y Ogawa, S Takada… - Proceedings of the …, 2022 - National Acad Sciences
Mammalian sex chromosomes are highly conserved, and sex is determined by SRY on the
Y chromosome. Two exceptional rodent groups in which some species lack a Y …

Genetics of 46, XY gonadal dysgenesis

M Elzaiat, K McElreavey, A Bashamboo - Best Practice & Research Clinical …, 2022 - Elsevier
In 46, XY men, testis is determined by a genetic network (s) that both promotes testis
formation and represses ovarian development. Disruption of this process results in a lack of …

At the crossroads of fate—somatic cell lineage specification in the fetal gonad

E Rotgers, A Jørgensen, HHC Yao - Endocrine reviews, 2018 - academic.oup.com
The reproductive endocrine systems are vastly different between males and females. This
sexual dimorphism of the endocrine milieu originates from sex-specific differentiation of the …

Genetic control of gonadal sex determination and development

I Stévant, S Nef - Trends in Genetics, 2019 - cell.com
Sex determination is the process by which the bipotential gonads develop as either testes or
ovaries. With two distinct potential outcomes, the gonadal primordium offers a unique model …

Diverse regulation but conserved function: SOX9 in vertebrate sex determination

B Vining, Z Ming, S Bagheri-Fam, V Harley - Genes, 2021 - mdpi.com
Sex determination occurs early during embryogenesis among vertebrates. It involves the
differentiation of the bipotential gonad to ovaries or testes by a fascinating diversity of …

Disorders of sex development—novel regulators, impacts on fertility, and options for fertility preservation

NL Gomes, T Chetty, A Jorgensen… - International Journal of …, 2020 - mdpi.com
Disorders (or differences) of sex development (DSD) are a heterogeneous group of
congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired …