scholarly journals Testis determination requires the function of a specific FGFR2 isoform

2017 ◽  
Vol 145 ◽  
pp. S145
Author(s):  
Daniel Bird ◽  
Stefan Bagheri-Fam ◽  
Li Li ◽  
Meiyun Yong ◽  
Raymond Lai ◽  
...  
Keyword(s):  
Testis Determination

From brain determination to testis determination: evolution of the mammalian sex-determining gene

2001 ◽  
Vol 13 (8) ◽  
pp. 665 ◽  
Author(s):  
Jennifer A. Marshall Graves
Keyword(s):  
Y Chromosome ◽  
Sex Chromosome ◽  
Critical Role ◽  
Dominant Gene ◽  
Comparative Gene Mapping ◽  
Good Account ◽  
Mole Vole ◽  
Sex Chromosome System ◽  
Testis Determination ◽  
Autosome Pair

In mammals, sex is determined by an XY male:XX female sex chromosome system in which a male-dominant gene on the Y chromosome (SRY) determines testis formation. Sex chromosomes evolved from an ordinary autosome pair as the Y chromosome was progressively degraded. The Y chromosome has lost nearly all of its 1500 original genes, and those that survived did so because they evolved a critical role in male determination or differentiation. SRY is typical of Y-borne genes. Comparative gene mapping and sequencing shows that SRY arose quite recently as a degraded version of the SOX3 gene on the X chromosome. SOX3 is expressed predominantly in brain, and so is more likely to be a brain-determining than a testis-determining gene. The male-dominant action of SRY may be an illusion, as its structure suggests that it works by interfering with the action of a related gene, which in turn inhibits testis development. This hypothesis can give a good account of how a brain-determining gene acquired a role in testis determination via differential dosage of SOX3. SRY has no central role in sex determination and it can be replaced as a trigger and lost, as have many other Y-borne genes in recent evolutionary history. The absence of SRY in two species of the mole vole (Ellobius) suggests that its useful life is already running out.

scholarly journals Male mice lacking ADAMTS-16 are fertile but exhibit testes of reduced weight

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Catherine Livermore ◽  
Nick Warr ◽  
Nicolas Chalon ◽  
Pam Siggers ◽  
Joffrey Mianné ◽  
...  
Keyword(s):  
Zinc Binding ◽  
Human Testis ◽  
Testis Weight ◽  
Male Mice ◽  
Loss Of Function ◽  
Phenotypic Data ◽  
Sex Development ◽  
Pathological Conditions ◽  
Differences Of Sex Development ◽  
Testis Determination

AbstractAdamts16 encodes a disintegrin-like and metalloproteinase with thrombospondin motifs, 16, a member of a family of multi-domain, zinc-binding proteinases. ADAMTS-16 is implicated in a number of pathological conditions, including hypertension, cancer and osteoarthritis. A large number of observations, including a recent report of human ADAMTS16 variants in cases of 46,XY disorders/differences of sex development (DSD), also implicate this gene in human testis determination. We used CRISPR/Cas9 genome editing to generate a loss-of-function allele in the mouse in order to examine whether ADAMTS-16 functions in mouse testis determination or testicular function. Male mice lacking Adamts16 on the C57BL/6N background undergo normal testis determination in the fetal period. However, adult homozygotes have an average testis weight that is around 10% lower than age-matched controls. Cohorts of mutant males tested at 3-months and 6-months of age were fertile. We conclude that ADAMTS-16 is not required for testis determination or male fertility in mice. We discuss these phenotypic data and their significance for our understanding of ADAMTS-16 function.

The SOX gene family: function and regulation in testis determination and male fertility maintenance

2012 ◽  
Vol 40 (3) ◽  
pp. 2187-2194 ◽  
Author(s):  
Ting Jiang ◽  
Cong-Cong Hou ◽  
Zhen-Yu She ◽  
Wan-Xi Yang
Keyword(s):  
Gene Family ◽  
Male Fertility ◽  
Family Function ◽  
Sox Gene ◽  
Testis Determination

Genetic Mechanisms that Regulate Testis Determination

2004 ◽  
Vol 5 (1) ◽  
pp. 77-82 ◽  
Author(s):  
Adriana Alejandra Carrillo ◽  
Gary David Berkovitz
Keyword(s):  
Genetic Mechanisms ◽  
Testis Determination

scholarly journals Separation of the Genetic Loci for the H-Y Antigen and for Testis Determination on Human Y Chromosome

1988 ◽  
Vol 43 (1) ◽  
pp. 52-54
Author(s):  
ELIZABETH SIMPSON ◽  
PHILLIP CHANDLER ◽  
ELS GOULMY ◽  
CHRISTINE M. DISTECHE ◽  
MALCOLM A. FERGUSON-SMITH ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Genetic Loci ◽  
Testis Determination ◽  
Human Y Chromosome

scholarly journals XY follicle cells in the ovaries of XO/XY and XO/XY/XYY mosaic mice

Development ◽  
1991 ◽  
Vol 111 (4) ◽  
pp. 1017-1019 ◽  
Author(s):  
S.J. Palmer ◽  
P.S. Burgoyne
Keyword(s):  
Sertoli Cells ◽  
Ovarian Development ◽  
In Situ Hybridisation ◽  
Cell Lineage ◽  
Supporting Cell ◽  
Follicle Cells ◽  
Cell Lineages ◽  
Determination Process ◽  
Testis Determination

XO/XY and XO/XY/XYY mosaic hermaphrodites were generated from crosses involving BALB/cWt males. The distribution of Y-bearing cells in the gonads of these mice was studied by in situ hybridisation using the Y-specific probe pY353B. XY cells were found to contribute to all cell lineages of the ovary including follicle cells. The proportion of XY follicle cells was not significantly different from the XY contribution to other gonadal or non-gonadal cell lineages. However, this proportion was consistently low, all the hermaphrodites having a low XY contribution to the animal as a whole. Because the XO- and Y-bearing cell lineages are developmentally balanced, the XY follicle cells cannot have formed as a result of a ‘mismatch’ in which the Y-directed testis determination process is pre-empted by an early acting programme of ovarian development. These results are discussed with respect to the hypothesis that Tdy acts in the supporting cell lineage, the lineage from which Sertoli cells and follicle cells are believed to be derived.

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