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PURA
The Pur-alpha protein is very highly conserved, with regulatory roles in DNA replication, gene transcription and RNA transport.〔 It is involved in neuronal proliferation, dendrite maturation, and the transport of mRNA to translation sites during neuronal development.〔 Mutations in PURA may alter normal brain development and impair neuronal function, causing a condition being known as PURA Syndrome.
== PURA Syndrome ==
PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. However recently, a separate condition called PURA Syndrome has been realised. De novo mutations in PURA have been reported in 21 individuals, across 3 published papers (Hunt et Al,〔Hunt, D., Leventer, R. J., Simons, C., Taft, R., Swoboda, K. J., Gawne-Cain, M., the DDD study, Magee, A. C., Turnpenny, P. D., Baralle, D.Whole exome sequencing in family trios reveals de novo mutations inPURA as a cause of severe neurodevelopmental delay and learning disability. J. Med. Genet. 51: 806-813, 2014.〕 Lalani et Al,〔Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C.-H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C.-T., Barbaro-Dieber, T., Kukolich, M. K., and 26 others. Mutations in PURAcause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am. J. Hum. Genet. 95: 579-583, 2014〕 Tanaka et Al〔Tanaka, A. J., Bai, R., Cho, M. T., Anyane-Yeboa, K., Ahimaz, P., Wilson, A. L., Kendall, F., Hay, B., Moss, T., Nardini, M., Bauer, M., Retterer, K., Juusola, J., Chung, W. K. De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harbor Molec. Case Studies 1: a000356, 2015. Note: Electronic Article.〕). Patients were identified by clinical whole-exome sequencing (WES). All mutations are heterozygous, with a similar phenotype of hypotonia, developmental delay, movement disorder and seizures / seizure like movements.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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