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OMIA:002760-10036 : Infertility, PIWI-related in Mesocricetus auratus (golden hamster)

Categories: Reproductive system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 605571 (gene) , 610312 (gene) , 610314 (gene) , 610315 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Molecular basis: Lv et al. (2023) investigated the role of PIWI-interacting RNAs (piRNA; Piwil1-4) on fertility in golden hamsters. The authors "describe the expression profiles, subcellular localization, and [CRISPR-Cas9 mediated] knockout-associated reproductive defects for all four PIWIs in golden hamsters. In female golden hamsters, PIWIL1 and PIWIL3 are highly expressed throughout oogenesis and early embryogenesis, while knockout of PIWIL1 leads to sterility, and PIWIL3 deficiency results in subfertility with lagging zygotic development. ... PIWIL1 and PIWIL4 are the predominant PIWIs expressed in adult and postnatal testes, respectively, while PIWIL2 is present at both stages. Loss of any PIWI expressed in testes leads to sterility and severe but distinct spermatogenesis disorders." This study involves genetically modified organisms (GMO).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002760-10036: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Lv, X., Xiao, W., Lai, Y., Zhang, Z., Zhang, H., Qiu, C., Hou, L., Chen, Q., Wang, D., Gao, Y., Song, Y., Shui, X., Chen, Q., Qin, R., Liang, S., Zeng, W., Shi, A., Li, J., Wu, L. :
The non-redundant functions of PIWI family proteins in gametogenesis in golden hamsters. Nat Commun 14:5267, 2023. Pubmed reference: 37644029. DOI: 10.1038/s41467-023-40650-x.
2021 Hasuwa, H., Iwasaki, Y.W., Au Yeung, W.K., Ishino, K., Masuda, H., Sasaki, H., Siomi, H. :
Production of functional oocytes requires maternally expressed PIWI genes and piRNAs in golden hamsters. Nat Cell Biol 23:1002-1012, 2021. Pubmed reference: 34489571. DOI: 10.1038/s41556-021-00745-3.
Zhang, H., Zhang, F., Chen, Q., Li, M., Lv, X., Xiao, Y., Zhang, Z., Hou, L., Lai, Y., Zhang, Y., Zhang, A., Gao, S., Fu, H., Xiao, W., Zhou, J., Diao, F., Shi, A., Su, Y.Q., Zeng, W., Wu, L., Li, J. :
The piRNA pathway is essential for generating functional oocytes in golden hamsters. Nat Cell Biol 23:1013-1022, 2021. Pubmed reference: 34489574. DOI: 10.1038/s41556-021-00750-6.

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  • Created by Imke Tammen2 on 31 Aug 2023