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2014 ; 1842
(6
): 758-64
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Human diseases of the SSU processome
#MMPMID24240090
Sondalle SB
; Baserga SJ
Biochim Biophys Acta
2014[Jun]; 1842
(6
): 758-64
PMID24240090
show ga
Ribosomes are the cellular machines responsible for protein synthesis. Ribosome
biogenesis, the production of ribosomes, is a complex process involving
pre-ribosomal RNA (rRNA) cleavages and modifications as well as ribosomal protein
assembly around the rRNAs to create the functional ribosome. The small subunit
(SSU) processome is a large ribonucleoprotein (RNP) in eukaryotes required for
the assembly of the SSU of the ribosome as well as for the maturation of the 18S
rRNA. Despite the fundamental nature of the SSU processome to the survival of any
eukaryotic cell, mutations in SSU processome components have been implicated in
human diseases. Three SSU processome components and their related human diseases
will be explored in this review: hUTP4/Cirhin, implicated in North American
Indian childhood cirrhosis (NAIC); UTP14, implicated in infertility, ovarian
cancer, and scleroderma; and EMG1, implicated in Bowen-Conradi syndrome (BCS).
Diseases with suggestive, though inconclusive, evidence for the involvement of
the SSU processome in their pathogenesis are also discussed, including a novel
putative ribosomopathy. This article is part of a Special Issue entitled: Role of
the Nucleolus in Human Disease.
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