title: An investigation of ribosomal protein L10 gene in autism spectrum disorders.
abstract: BACKGROUND
  Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with the male:female ratio of 4:1, implying the contribution of X chromosome genetic factors to the susceptibility of ASD. The ribosomal protein L10 (RPL10) gene, located on chromosome Xq28, codes for a key protein in assembling large ribosomal subunit and protein synthesis. Two non-synonymous mutations of RPL10, L206M and H213Q, were identified in four boys with ASD. Moreover, functional studies of mutant RPL10 in yeast exhibited aberrant ribosomal profiles. These results provided a novel aspect of disease mechanisms for autism--aberrant processes of ribosome biosynthesis and translation. To confirm these initial findings, we re-sequenced RPL10 exons and quantified mRNA transcript level of RPL10 in our samples.
  
  
  METHODS
  141 individuals with ASD were recruited in this study. All RPL10 exons and flanking junctions were sequenced. Furthermore, mRNA transcript level of RPL10 was quantified in B lymphoblastoid cell lines (BLCL) of 48 patients and 27 controls using the method of SYBR Green quantitative PCR. Two sets of primer pairs were used to quantify the mRNA expression level of RPL10: RPL10-A and RPL10-B.
  
  
  RESULTS
  No non-synonymous mutations were detected in our cohort. Male controls showed similar transcript level of RPL10 compared with female controls (RPL10-A, U = 81, P = 0.7; RPL10-B, U = 61.5, P = 0.2). We did not observe any significant difference in RPL10 transcript levels between cases and controls (RPL10-A, U = 531, P = 0.2; RPL10-B, U = 607.5, P = 0.7).
  
  
  CONCLUSIONS
  Our results suggest that RPL10 has no major effect on the susceptibility to ASD.
authors.affiliation: Human Genetics and Cognitive Functions, CNRS URA 2182 Genes, Synapses and Cognition, Institut Pasteur, Paris, France. gongxh@fudan.edu.cn
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Gong
authors.forename: Richard
authors.initials: R
authors.lastname: Delorme
authors.forename: Fabien
authors.initials: F
authors.lastname: Fauchereau
authors.forename: Christelle M
authors.initials: CM
authors.lastname: Durand
authors.forename: Pauline
authors.initials: P
authors.lastname: Chaste
authors.forename: Catalina
authors.initials: C
authors.lastname: Betancur
authors.forename: Hany
authors.initials: H
authors.lastname: Goubran-Botros
authors.forename: Gudrun
authors.initials: G
authors.lastname: Nygren
authors.forename: Henrik
authors.initials: H
authors.lastname: Anckarsäter
authors.forename: Maria
authors.initials: M
authors.lastname: Rastam
authors.forename: I Carina
authors.initials: IC
authors.lastname: Gillberg
authors.forename: Svenny
authors.initials: S
authors.lastname: Kopp
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Mouren-Simeoni
authors.forename: Christopher
authors.initials: C
authors.lastname: Gillberg
authors.forename: Marion
authors.initials: M
authors.lastname: Leboyer
authors.forename: Thomas
authors.initials: T
authors.lastname: Bourgeron
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D041321:Chromosomes, Human, X; D015331:Cohort Studies; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000080882:Ribosomal Protein L10; D012269:Ribosomal Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D012333:RNA, Messenger; C000630686:RPL10 protein, human; D012269:Ribosomal Proteins