An investigation of ribosomal protein L10 gene in autism spectrum disorders.
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.
Gong
Xiaohong
X
Human Genetics and Cognitive Functions, CNRS URA 2182 Genes, Synapses and Cognition, Institut Pasteur, Paris, France. gongxh@fudan.edu.cn
Delorme
Richard
R
Fauchereau
Fabien
F
Durand
Christelle M
CM
Chaste
Pauline
P
Betancur
Catalina
C
Goubran-Botros
Hany
H
Nygren
Gudrun
G
Anckarsäter
Henrik
H
Rastam
Maria
M
Gillberg
I Carina
IC
Kopp
Svenny
S
Mouren-Simeoni
Marie-Christine
MC
Gillberg
Christopher
C
Leboyer
Marion
M
Bourgeron
Thomas
T
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
D012333:RNA, Messenger; C000630686:RPL10 protein, human; D012269:Ribosomal Proteins