PADI6

Official Full Name

peptidyl arginine deiminase 6

Organism

Homo sapiens

GeneID

353238

Background

This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]

Synonyms

hPADVI; OZEMA16; PREMBL2;

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Detailed Information

PADI6 knockout phenotype of female sterility caused by fertilized eggs cleavage failure

Human gene knockout has profoundly expanded our understanding of the medical relevance of genes, such as the biallelic inactivation of genes gives the consequence of severe Mendelian disorders, while other genes are tolerated when knocked out. The embryonic lethality has been put forward as extreme human knockout events as Mendelian phenotypic consequence, and it was studied in Saudi population with the advantage of consanguineous nature, where the homozygous occurrence of alleles facilitated by autozygosity. There was an example of early embryonic lethality caused by hemizygously TLE6 inactivated eggs for undergoing a first cleavage failure after fertilization. Subsequent from this, a very similar phenotype caused by PADI6 homozygous inactivation was identified.

mRNA-MSY2 complex securing the role of PADI6 to oocyte cytoplasmic lattices

In the prediction to be a storage form for the maternal contribution of ribosomes to the early embryo, the oocyte cytoplasmic lattices (CPLs) are demonstrated to be stored with ribosomal component S6 and peptidyl arginine deiminase 6 (PADI6) is critical for its formation. More than this, the priority of the depletion of PADI6 reduced de novo protein synthesis to the maternal-to-embryonic transition was demonstrated to cause embryos to arrest at the two-cell stage. The association of ribosomes with the CPLs was further supported by the evidence that dramatically decreasing of rRNAs in Padi6 KO oocytes. The case of abundance and localization of mRNA affecting upon PADI6 depletion magnified the possibility of its association with CPLs. Echoed with this observation, insoluble fraction of the oocytes associated RNA binding protein, MSY2, the amount of which is also markedly decreased in the Padi6 KO oocytes after Triton X-100 extraction. Triton X-100 extraction followed RNase A treatment upon the oocytes can severely impair the localization of PADI6 and MSY2 in oocytes. All those mentioned may give the indication that mRNAs, bounded with a complex of MSY2 and PADI6 in the CPLs, may play a role in securing the mRNA MSY2 complex to the CPLs.

PADI6 Figure 1. PADI6 knockout phenotype of female sterility inducted by cleavage failure of fertilized eggs. (S. Maddirevula, et al. 2016)

References:

Maddirevula S, Coskun S, Awartani K, et al. The human knockout phenotype of PADI6 is female sterility caused by cleavage failure of their fertilized eggs. Clinical genetics, 2017, 91(2): 344-345.
Liu X, Morency E, Li T, et al. Role for PADI6 in securing the mRNA-MSY2 complex to the oocyte cytoplasmic lattices. Cell Cycle, 2017, 16(4): 360-366.

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