The TALE homeodomain of PBX1 is involved in human primary testis‐determination

2019 ◽  
Author(s):  
Caroline Eozenou ◽  
Anu Bashamboo ◽  
Joelle Bignon‐Topalovic ◽  
Tiphanie Merel ◽  
Oliver Zwermann ◽  
...  
2001 ◽  
Vol 13 (8) ◽  
pp. 665 ◽  
Author(s):  
Jennifer A. Marshall Graves

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.


2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Catherine Livermore ◽  
Nick Warr ◽  
Nicolas Chalon ◽  
Pam Siggers ◽  
Joffrey Mianné ◽  
...  

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.


2004 ◽  
Vol 18 (5) ◽  
pp. 1158-1170 ◽  
Author(s):  
Janice S. Bailey ◽  
Naama Rave-Harel ◽  
Shauna M. McGillivray ◽  
Djurdjica Coss ◽  
Pamela L. Mellon

2013 ◽  
Vol 243 (1) ◽  
pp. C1-C1
Author(s):  
Andrea K. Kalis ◽  
Djem U. Kissiov ◽  
Emily S. Kolenbrander ◽  
Zachary Palchick ◽  
Shraddha Raghavan ◽  
...  

2012 ◽  
Vol 40 (3) ◽  
pp. 2187-2194 ◽  
Author(s):  
Ting Jiang ◽  
Cong-Cong Hou ◽  
Zhen-Yu She ◽  
Wan-Xi Yang

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

1988 ◽  
Vol 43 (1) ◽  
pp. 52-54
Author(s):  
ELIZABETH SIMPSON ◽  
PHILLIP CHANDLER ◽  
ELS GOULMY ◽  
CHRISTINE M. DISTECHE ◽  
MALCOLM A. FERGUSON-SMITH ◽  
...  

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