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Human diseases of the SSU processome
Samuel B Sondalle1, Susan J Baserga2
1Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.
Biochimica Et Biophysica Acta
|November 19, 2013
Summary
The small subunit (SSU) processome is vital for ribosome biogenesis and 18S rRNA maturation. Mutations in SSU components like hUTP4/Cirhin, UTP14, and EMG1 are linked to human diseases, including NAIC, infertility, and Bowen-Conradi syndrome.
Area of Science:
- Molecular Biology
- Cell Biology
- Genetics
Background:
- Ribosomes are essential for protein synthesis, and their production (ribosome biogenesis) is a complex cellular process.
- The small subunit (SSU) processome is a crucial ribonucleoprotein complex in eukaryotes, essential for assembling the ribosome's small subunit and maturing the 18S rRNA.
- Dysfunction in SSU processome components can lead to severe human diseases.
Purpose of the Study:
- To review the role of the small subunit (SSU) processome in ribosome biogenesis and its connection to human diseases.
- To explore specific SSU processome components, including hUTP4/Cirhin, UTP14, and EMG1, and their associated pathologies.
- To discuss diseases with potential, though not yet conclusive, links to SSU processome dysfunction.
Main Methods:
- Literature review focusing on SSU processome components and their genetic links to human diseases.
- Analysis of existing research on North American Indian childhood cirrhosis (NAIC), infertility, ovarian cancer, scleroderma, and Bowen-Conradi syndrome (BCS).
- Discussion of potential novel ribosomopathies related to SSU processome function.
Main Results:
- Mutations in hUTP4/Cirhin are implicated in North American Indian childhood cirrhosis (NAIC).
- UTP14 mutations are associated with infertility, ovarian cancer, and scleroderma.
- EMG1 mutations are linked to Bowen-Conradi syndrome (BCS).
- Evidence suggests potential involvement of the SSU processome in other human diseases, including a putative ribosomopathy.
Conclusions:
- The SSU processome is critical for eukaryotic cell survival, and its components are directly linked to specific human diseases.
- Understanding these links can provide insights into disease pathogenesis and potential therapeutic targets.
- Further research is needed to fully elucidate the role of the SSU processome in various human pathologies.
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