Transcriptional Elongation and mRNA Export Are Coregulated Processes

Table 1

Human disorders associated with mRNA biogenesis and mRNA export defects.

Gene	Pathologies/disorders	Comments	References
GLE1	Lethal congenital contracture syndrome 1 (LCCS1)	Encodes a protein required for the export of mRNAs from the nucleus to the cytoplasm and is critical in motoneuron development and maturation.	[3]
X-linked mental retardation (XLMR)	Fragile X syndrome (FXS)	Inactivation of the X-linked FMR1 gene leads to the loss of its encoded protein FMRP and RNA export factor NXF2, causing defects in neuronal development and function as well as in male germ cells.	[4]
NUP155	Atrial fibrillation (AF)	Mutations in the gene are an inherited form of clinical arrhythmia that can lead to sudden cardiac death.	[7]
NUP98 and NUP214	Acute myelogenous leukemia (AML).	Translocations in the gene have been characterised as mutations leading to several types of leukaemia.	[8–10]
ATXN7	Neurodegenerative disease spinocerebellar ataxia type 7 (SCA7)	The expansion of an unstable CAG repeat in the first exon of the SCA7 gene causes this neurodegenerative disease	[11]
USP22	Associated with poor prognosis of diverse cancer types	Catalyses the deubiquitylation of histone H2B and is required for appropriate cell-cycle progression. Component of the 11-gene polycomb/cancer stem-cell signature	[12]
TREX84	Breast cancer	Its expression is strongly associated with an aggressive phenotype of human breast tumour	[13]