Human diseases of the SSU processome

Biochim Biophys Acta. 2014 Jun;1842(6):758-64. doi: 10.1016/j.bbadis.2013.11.004. Epub 2013 Nov 12.


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.

Keywords: EMG1; Ribosomopathy; SSU processome; UTP14; hUTP4/Cirhin.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Cell Nucleolus / genetics*
  • Cell Nucleolus / metabolism
  • Cell Nucleolus / pathology
  • Disease / etiology
  • Disease / genetics*
  • Fetal Growth Retardation / genetics*
  • Fetal Growth Retardation / pathology
  • Humans
  • Psychomotor Disorders / genetics*
  • Psychomotor Disorders / pathology
  • RNA Precursors / genetics
  • RNA, Ribosomal, 18S / genetics*
  • RNA, Ribosomal, 18S / metabolism
  • Ribonucleoproteins / genetics
  • Ribonucleoproteins / metabolism
  • Ribosomal Proteins / metabolism
  • Ribosome Subunits, Small / genetics
  • Ribosome Subunits, Small / metabolism


  • RNA Precursors
  • RNA, Ribosomal, 18S
  • Ribonucleoproteins
  • Ribosomal Proteins

Supplementary concepts

  • Bowen-Conradi syndrome