scholarly journals WNT4 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Wnt4 Gene

WT1 and Sox11 regulate synergistically the promoter of the Wnt4 gene that encodes a critical signal for nephrogenesis

2012 ◽  
Vol 318 (10) ◽  
pp. 1134-1145 ◽  
Author(s):  
Subramanian Murugan ◽  
Jingdong Shan ◽  
Susanne J. Kühl ◽  
Aleksandra Tata ◽  
Ilkka Pietilä ◽  
...  
Keyword(s):  
Critical Signal ◽  
Wnt4 Gene

scholarly journals Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study

2008 ◽  
Vol 93 (3) ◽  
pp. 895-900 ◽  
Author(s):  
Pascal Philibert ◽  
Anna Biason-Lauber ◽  
Roman Rouzier ◽  
Catherine Pienkowski ◽  
Françoise Paris ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Adolescent Girls ◽  
Direct Sequencing ◽  
Collaborative Work ◽  
Collaborative Study ◽  
Plasma Testosterone ◽  
Primary Amenorrhea ◽  
Severe Acne ◽  
Wnt4 Gene ◽  
Duct Development

Abstract Context: Müllerian duct development depends on gene and hormone interactions. Female Wnt4-knockout mice lack müllerian ducts and are virilized due to the inappropriate expression of the enzymes required for androgen production (normally repressed in female ovary). The WNT4 mutation was recently reported to be associated with failure of müllerian duct formation and virilization in two 46, XX women. Objectives: This collaborative work was designed to determine whether the WNT4 mutation could be identified in a group of adolescent girls with Mayer-Rokitansky-Küster-Hauser syndrome. Results: We analyzed 28 DNA samples from adolescent girls with primary amenorrhea and failure of müllerian duct formation by direct sequencing and identified a new L12P mutation within exon 1 of the WNT4 gene. The substitution of leucine by proline is crucial for the conformation of the expressed protein. This amino acid substitution is unlikely to be a polymorphism because it was not found in 100 DNAs from control subjects. Functional analysis revealed that the mutation induces significantly increased expression of the enzymes involved in androgen biosynthesis (3β-hydroxysteroid dehydrogenase and 17α-hydroxylase). It is interesting to note that the adolescent carrying the mutation was referred to our clinic for primary amenorrhea and hyperandrogenism (severe acne and plasma testosterone: 1.8 vs. 1.2 nmol/liter in controls). She also presented with uterine hypoplasia and follicle depletion. Conclusions: We suggest that in adolescent girls with primary amenorrhea, müllerian duct abnormalities, and hyperandrogenism, a WNT4 mutation should be sought. Moreover, our data confirm that WNT4 is involved in the regulation of müllerian duct development and ovarian androgen biosynthesis. WNT4 may also contribute to human follicle development and/or maintenance.

scholarly journals Key Promoter Region of Wnt4 response to FSH and Genetic Effect on Several Production Traits of Its Mutations in Chicken

2021 ◽  
Author(s):  
Conghao Zhong ◽  
Yiya Wang ◽  
Cuiping Liu ◽  
Yunliang Jiang ◽  
Li Kang
Keyword(s):  
Hormone Receptors ◽  
Integration Site ◽  
Regulatory Region ◽  
Follicular Development ◽  
Genetic Effect ◽  
Egg Laying ◽  
Production Traits ◽  
Activated T Cells ◽  
Tumor Virus ◽  
Wnt4 Gene

The signaling pathway of the wingless-type mouse mammary tumor virus integration site (Wnt) plays an important role in ovarian and follicular development. Wnt4 was shown in our previous study to be involved in the selection and development of chicken follicles by up-regulating the expression of follicle stimulating hormone receptors (FSHR), stimulating the proliferation of follicular granulosa cells and increasing the secretion of steroidal hormones. To further characterize cis-elements regulating chicken Wnt4 transcription, in this study we determined critical regulatory regions affecting chicken Wnt4 transcription, then identified a single nucleotide polymorphism (SNP) in this region, and finally analyzed the association of the SNP with chicken production traits. The results showed that the 5 regulatory region from -3354 to -2689 of the chicken Wnt4 gene had the strongest activity and greatest response to FSH stimulation, and that one SNP site -3015 (G > C) in this segment was identified as affecting the binding of NFAT5 (nuclear factor of activated T cells 5). When G was replaced by C at this site, it eliminated the binding by NFAT5. Moreover, this locus was significantly associated with the keel length and comb length of hens. Individuals with the genotype CG had longer keels while those with genotype CC had longer combs. Collectively, these data suggested that the SNP-3015 (G > C) is (i) involved in the regulation of Wnt4 gene expression by affecting the binding of NFAT5, (ii) associated with chicken keel length and comb length, and (iii) is a potential DNA marker in the molecular breeding of chickens for egg laying.

scholarly journals Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure

2011 ◽  
Vol 9 (1) ◽  
pp. 75 ◽  
Author(s):  
Beili Chen ◽  
Peisu Suo ◽  
Binbin Wang ◽  
Jing Wang ◽  
Lu Yang ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Premature Ovarian Failure ◽  
Chinese Women ◽  
Ovarian Failure ◽  
Han Chinese ◽  
Wnt4 Gene

Absence of WNT4 gene mutation in a patient with MURCS association

2014 ◽  
Vol 27 (5-6) ◽  
Author(s):  
Zohreh Shoar ◽  
Tapan Ganguly ◽  
Carol E. Anderson ◽  
Francesco De Luca ◽  
Elizabeth Suarez
Keyword(s):  
Gene Mutation ◽  
Wnt4 Gene

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome)

2011 ◽  
Vol 95 (8) ◽  
pp. 2683-2686 ◽  
Author(s):  
Pascal Philibert ◽  
Anna Biason-Lauber ◽  
Iva Gueorguieva ◽  
Chantal Stuckens ◽  
Catherine Pienkowski ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Adolescent Girls ◽  
Mullerian Duct ◽  
Müllerian Duct ◽  
Wnt4 Gene

Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome

2008 ◽  
Vol 90 (3) ◽  
pp. 857-859 ◽  
Author(s):  
J DRUMMOND ◽  
F REIS ◽  
W BOSON ◽  
L SILVEIRA ◽  
M BICALHO ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Wnt4 Gene

Negative regulation of the Wnt signal by MM-1 through inhibiting expression of the wnt4 gene

2008 ◽  
Vol 314 (6) ◽  
pp. 1217-1228 ◽  
Author(s):  
Tatsuya Yoshida ◽  
Hirotake Kitaura ◽  
Yuko Hagio ◽  
Toshiya Sato ◽  
Sanae M.M. Iguchi-Ariga ◽  
...  
Keyword(s):  
Negative Regulation ◽  
Wnt4 Gene ◽  
Wnt Signal
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