AGO4 gene

Last updated on: 05.07.2024

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The AGO4 gene (AGO4 stands for: Argonaute RISC Component 4) is a protein-coding gene located on chromosome 1p34.3. The AGO4 gene encodes a member of the Argonaute family of proteins that contain PAZ and PIWI domains and play an essential role in RNA interference and short interfering RNA-mediated gene silencing. An important paralog of this gene is AGO1.

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The AGO4 gene is located on chromosome 1 in a group of related family members. Humans have four AGO proteins, AGO1, AGO2, AGO3 and AGO4, which have high sequence identity. Since most miRNAs are found in the four AGOs, it was assumed that they function redundantly. Nevertheless, more and more studies have shown that the other paralogs play a unique role in various biological processes and diseases (Nakanishi K 2022).

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  1. Bonafe L (2002) RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet 61: 146-151
  2. Makitie O (2001) Increased mortality in cartilage-hair hypoplasia. Arch Dis Child 84: 65-67
  3. Nakanishi K (2022) Anatomy of four human Argonaute proteins. Nucleic Acids Res 50:6618-6638.
  4. Ridanpaa M et al. (2002) Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin o the major 70A-G muatation of untranslated RMPR. Eur J Hum Gent 10: 439-447
  5. Vakkilainen S et al.(2020) Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management. Scand J Immunol 92:e12913.

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Last updated on: 05.07.2024