Rabbit Anti-Human RPL10 (a.a. 1-214) Polyclonal antibody

Intellectual disability is a neurodevelopmental disorder of impaired adaptive skills and low intelligence quotient. The overall prevalence is estimated at 2-3% in the general population with extreme clinical and genetic heterogeneity, and it has been associated with possibly causative mutations in more than 700 identified genes. In a recent review, among over 100 X-linked intellectual disability causative genes, eight were reported as "awaiting replication." Exome sequencing in a large family identified a missense mutation in RPL10 highly suggestive of X-linked intellectual disability. Herein, we report on the clinical description of four affected males. All patients presented apparent intellectual disability (4/4), psychomotor delay (4/4) with syndromic features including amniotic fluid excess (3/4), microcephaly (2/4), urogenital anomalies (3/4), cerebellar syndrome (2/4), and facial dysmorphism. In the literature, two mutations were reported in three families with affected males presenting with autism. This report confirms the implication of RPL10 mutations in neurodevelopmental disorders and extends the associated clinical spectrum from autism to syndromic intellectual disability. (C) 2015 Wiley Periodicals, Inc.

RPL29 (YFR032c-a) is a non-essential gene that codes for a 60S ribosomal subunit protein in Saccharomyces cerevisiae. Deletion of RPL29 leads to a moderate accumulation of half-mer polysomes with little or no change in the amounts of free 60S subunits. In vitro translation and the growth rate are also delayed in the Deltarpl29 strain. Such a phenotype is characteristic of mutants defective in 60S to 40S subunit joining. The Deltarpl29 strain exhibits synthetic lethality with mutations in RPL10, the gene encoding an essential 60S ribosomal subunit protein that is required for 60S to 40S subunit joining. The Deltarpl29 strain also exhibits synthetic lethality with RSA1, a gene encoding a nucleoplasmic protein required for the loading of Rp110p onto the 60S subunit [1]. Over-expression of RPL10 suppresses the half-mer phenotype of the Deltarpl29 strain, but does not correct the growth defect of the deletion strain. We conclude that absence of Rp129p impairs proper assembly of proteins onto the 60S subunit and that this retards subunit joining and additionally retards protein synthesis subsequent to subunit joining. (C) 2002 Elsevier Science B.V. All rights reserved.