Ribosomopathy
[citation needed] The nomenclature of rRNA subunits is derived from each component's Svedberg unit, which is an ultracentrifuge sedimentation coefficient, that is affected by mass and also shape.
60S rRNA acts as a ribozyme, catalyzing peptide bond formation, while 40S monitors the complementarity between tRNA anticodon and mRNA.
[24] The associated chromosome, OMIM genotype, phenotype, and possible disruption points are shown: Several ribosomopathies share features such as inherited bone marrow failure, which is characterized a reduced number of blood cells and by a predisposition to cancer.
[16] With the exception of rare GATA1 genotypes,(cite) Diamond–Blackfan anemia (DBA) arises from a variety of mutations that cause ribosomopathies.
[35] The X-linked subtype of dyskeratosis congenita (DKCX)[citation needed] Shwachman–Diamond syndrome (SDS) is caused by bi-allelic mutations in the SBDS protein that affects its ability to couple GTP hydrolysis by the GTPase EFL1 to the release of eIF6 from the 60S subunit.
[36] Clinically, SDS affects multiple systems, causing bony abnormalities, and pancreatic and neurocognitive dysfunction.
[citation needed] 5q- myelodysplastic syndrome (MDS)[37] is associated with acquired haplo-insufficiency of RPS14,[37] a component of the eukaryotic small ribosomal subunit (40S).
[5] Treacher Collins syndrome (TCS) Cartilage–hair hypoplasia (CHH) - some sources list confidently as ribosomopathy, others question[citation needed] NAIC is an autosomal recessive abnormality of the UTP4 gene, which codes for cirhin.
Bowen–Conradi syndrome (BCS[38] or BWCNS[39]) is an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly.
[43] Unlike the mutations of the 5 genes associated with DNA mismatch repair, which are associated with Lynch syndrome with hereditary nonpolyposis colorectal cancer (HNPCC) due to microsatellite instability, familial colorectal cancer (CRC) type X (FCCX) gives rise to HNPCC despite microsatellite stability.
