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Publication : Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

First Author	Karaca E	Year	2014
Journal	Cell	Volume	157
Issue	3	Pages	636-50
PubMed ID	24766809	Mgi Jnum	J:209564
Mgi Id	MGI:5568133	Doi	10.1016/j.cell.2014.02.058
Citation	Karaca E, et al. (2014) Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell 157(3):636-50

abstractText

CLP1 is a RNA kinase involved in tRNA splicing. Recently, CLP1 kinase-dead mice were shown to display a neuromuscular disorder with loss of motor neurons and muscle paralysis. Human genome analyses now identified a CLP1 homozygous missense mutation (p.R140H) in five unrelated families, leading to a loss of CLP1 interaction with the tRNA splicing endonuclease (TSEN) complex, largely reduced pre-tRNA cleavage activity, and accumulation of linear tRNA introns. The affected individuals develop severe motor-sensory defects, cortical dysgenesis, and microcephaly. Mice carrying kinase-dead CLP1 also displayed microcephaly and reduced cortical brain volume due to the enhanced cell death of neuronal progenitors that is associated with reduced numbers of cortical neurons. Our data elucidate a neurological syndrome defined by CLP1 mutations that impair tRNA splicing. Reduction of a founder mutation to homozygosity illustrates the importance of rare variations in disease and supports the clan genomics hypothesis.

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Publication : Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

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