Role of WNT4 gene in human sex determination. Created by Tousif Khan. Presented by Pranab Karmakar, Subham Karmakar, Rahul Naskar, Suravi Saha Roy.

1. WNT 4 GENE
Vijaygarh Jyotish Ray College
CC 12, Principle of Genetics, SEM 5
Presented by
Pranab Karmakar
Subham Karmakar
Rahul Naskar
Suravi Saha Roy
Tousif Khan
1 February 2021

2. ABOUT
The WNT gene family consists of structurally related genes which encode secreted
signaling proteins. These proteins have been implicated in oncogenesis and in
several developmental processes, including regulation of cell fate and patterning
during embryogenesis. This gene is a member of the WNT gene family, and is the
first signaling molecule shown to influence the sex-determination cascade. It
encodes a protein which shows 98% amino acid identity to the Wnt4 protein of
mouse and rat. This gene and a nuclear receptor known to antagonize the testis-
determining factor play a concerted role in both the control of female development
and the prevention of testes formation.
Official Symbol: WNT4
Official Full Name: Wingless-Type MMTV Integration Site Family, Member 4
Gene type: Protein coding
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3. LOCATION
Chromosome no: Chromosome 1 (Human)
Band: 1p36. 12
Start: 22,117,313 bp End: 22,143,969 bp
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Chromosome 1 (Human)

4. EXPRESSION
Biased expression in skin (RPKM 8.0), ovary (RPKM 4.5) and 13 other tissues
Analysis date: Wed Apr 4 07:08:55 2018
RPKM: reads per Kilobase per million reads placed
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5. FUNCTION
 Pregnancy: It regulates endometrial stromal cell proliferation, survival, and differentiation. These
processes are all necessary for the development of an embryo.
 Sexual Development: It plays an important role in human sex determination which will be described
later.
 Kidneys: WNT4 is essential for nephro genesis. It regulates kidney tubule induction and
the mesenchymal to epithelial transformation in the cortical region. In addition, it influences the fate of the
medullary stroma during development.
 Muscles: WNT4 contributes to the formation of the neuromuscular junction in vertebrates. Expression
is high during the creation of first synaptic contacts, but subsequently down regulated.
 Lungs: WNT4 is also associated with lung formation and has a role in the formation of the respiratory
system.
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6. Significance in Human Sex Determination
 In the early stage of fetal development, WNT4 is required in both sexes for formation of
Mullerian duct. But later in male development the expression of WNT4 is blocked by the
protein product of SRY gene.
 In female development the protein product of WNT4 gene activates ovary determining
genes to synthesize ovary determining factors. Which in turn initiates the development of
female gonad.
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7. THANK YOU
References:
1. https://en.wikipedia.org/wiki/WNT4
2. https://www.genecards.org/cgi-bin/carddisp.pl?gene=WNT4
3. https://www.ncbi.nlm.nih.gov/gene/54361
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