Association of WNT4 polymorphisms with endometriosis in infertile patients

Mafra, Fernanda; Catto, Michele; Bianco, Bianca; Barbosa, Caio Parente; Christofolini, Denise Maria

doi:10.1007/s10815-015-0523-1

Cited by 37 publications

(33 citation statements)

References 31 publications

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“…ERCC4 participates in DNA repair and recombination by forming a complex with ERCC1 (15) and TH. Interestingly, WNT4, a WNT/␤-catenin signalingrelated gene, was found to exhibit an association with human endometriosis (34). WNT signaling in mice is involved in the control of reproduction (50).…”

Section: Discussionmentioning

confidence: 99%

Comparative genomic analysis of the human and nematodeCaenorhabditis elegansuncovers potential reproductive genes and disease associations in humans

Kim

Park

Hwang

et al. 2018

Physiological Genomics

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Reproduction is an important biological process. However, studies of human reproduction at the molecular level are limited due to the difficulty of performing in vivo studies. Hence, a mechanistic understanding of human reproduction remains still poor. Thus, it is important to use an alternative model organism for mechanistic studies of human reproduction. In this study, we used the nematode Caenorhabditis elegans as a model for studying human reproduction and identified 61 human and 535 worm reproductive genes through a combination of comparative genomic and Gene Ontology (GO) analyses. Interestingly, in terms of sex specificity, the number of male-specific genes was greater than the number of female-specific genes. Gene enrichment analysis identified biologically significant processes such as protein localization to cajal bodies/telomeres/nuclear bodies/chromosomes, helicase activity, pyrimidine biosynthesis, and determination of adult lifespan. Regarding the analysis of human reproductive diseases among the identified genes, 10 and 12 genes were identified in the human- and C. elegans-based analyses, respectively. In addition, RNA interference knockdown of a newly identified F52H2.6/DHCR24 gene increased brood size and ovulation/egg-laying rate in C. elegans. Therefore, gene identification, disease associations, and a proof-of-concept experiment using C. elegans will not only provide insights into mechanistic study of human reproduction, but also demonstrate the utility in studying human reproduction.

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Section: Discussionmentioning

confidence: 99%

Comparative genomic analysis of the human and nematodeCaenorhabditis elegansuncovers potential reproductive genes and disease associations in humans

Kim

Park

Hwang

et al. 2018

Physiological Genomics

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“…Since WNT4 inhibits the male development in the female and males do not need WNT4 for their sex development (Vainio et al 1999), situations between these two extremes are characterized by different degrees of masculinization of the female (reviewed in Biason-Lauber 2012). In recent years, an association between genetic variations in WNT4 gene and endometriosis has been identified (Mafra et al 2015) suggesting a role in endometrium development.…”

Section: Wnt4mentioning

confidence: 99%

The Battle of the Sexes: Human Sex Development and Its Disorders

Biason‐Lauber

2016

Results and Problems in Cell Differentiation

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The process of sexual differentiation is central for reproduction of almost all metazoan and therefore for maintenance of practically all multicellular organisms. In sex development we can distinguish two different processes: First, sex determination is the developmental decision that directs the undifferentiated embryo into a sexually dimorphic individual. In mammals, sex determination equals gonadal development. The second process known as sex differentiation takes place once the sex determination decision has been made through factors produced by the gonads that determine the development of the phenotypic sex. Most of the knowledge on the factors involved in sexual development came from animal models and from studies of cases in whom the genetic or the gonadal sex does not match the phenotypical sex, i.e., patients affected by disorders of sex development (DSD). Generally speaking, factors influencing sex determination are transcriptional regulators, whereas factors important for sex differentiation are secreted hormones and their receptors. This review focuses on the factors involved in gonadal determination, and whenever possible, references on the "prismatic" clinical cases are given.

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“…In fact, while too much WNT4 activity (duplication) induces feminization of the male (46, XY DSD), too little WNT4 activity (homozygous loss-offunction mutation) induces exactly the opposite, i.e., masculinization of the female (46, XX DSD). In recent years, an association between genetic variations in WNT4 gene and endometriosis has been identified (Mafra et al 2015) suggesting a role in endometrium development. In recent years, an association between genetic variations in WNT4 gene and endometriosis has been identified (Mafra et al 2015) suggesting a role in endometrium development.…”

Section: Wnt4mentioning

confidence: 99%