North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree children in northwestern Quebec, Canada. The disease is due to an

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

abnormality of the ''

UTP4 ''UTP4'' is a gene that encodes the protein Cirhin, the gene is also known as ''CIRH1A'' and ''NAIC''. This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and WDR43. Biallelic mutations to ''UTP4'' ...

'' gene, which codes for cirhin. NAIC is a

ribosomopathy Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes, or other genes whose products are involved in ribosome biogenesis. Ribosomes Ribosomes are essential for protein synt ...

. An R565W mutation of ''UTP4'' leads to partial impairment of cirhin interaction with NOL11. Initial transient neonatal jaundice advances over time to

biliary cirrhosis Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is an autoimmune disease of the liver. It results from a slow, progressive destruction of the small bile ducts of the liver, causing bile and other toxins to build ...

with severe liver fibrosis. Eventually, liver failure occurs, and requires liver transplantation.

References

North American Indian childhood cirrhosis
on Genetics Home Reference {{reflist, refs= ←KEEP: This reference list is organized alphanumerically by arbitrary ref name--> {{cite journal , authors=Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ , title=NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing , journal=PLOS Genet. , volume=8 , issue=8 , pages=e1002892 , year=2012 , pmid=22916032 , pmc=3420923 , doi=10.1371/journal.pgen.1002892 {{cite journal , authors=McCann KL, Baserga SJ , title=Genetics. Mysterious ribosomopathies , journal=Science , volume=341 , issue=6148 , pages=849–50 , year=2013 , pmid=23970686 , pmc=3893057 , doi=10.1126/science.1244156 {{OMIM, 604901 {{OMIM, 607456 {{cite journal , authors=Sondalle SB, Baserga SJ , title=Human diseases of the SSU processome , journal=Biochim. Biophys. Acta , volume=1842 , issue=6 , pages=758–64 , year=2014 , pmid=24240090 , doi=10.1016/j.bbadis.2013.11.004 , pmc=4058823 Autosomal recessive disorders Diseases of liver Ribosomopathy

See also

References