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An investigation of ribosomal protein L10 gene in autism spectrum disorders

Gong, Xiaohong; Delorme, Richard; Fauchereau, Fabien; Durand, Christelle M; Chaste, Pauline; Betancur, Catalina; Goubran-Botros, Hany; Nygren, Gudrun; Anckarsäter, Henrik LU and Råstam, Maria LU , et al. (2009) In BMC Medical Genetics 10(7).
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... (More)
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).



Conclusion:

Our results suggest that RPL10 has no major effect on the susceptibility to ASD. (Less)
Please use this url to cite or link to this publication:
@article{30c275a7-4005-406b-80fd-b225c2d6031a,
  abstract     = {Background: <br/><br>
Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with the male:female ratio of 4:1,<br/><br>
implying the contribution of X chromosome genetic factors to the susceptibility of ASD. The ribosomal protein L10 (RPL10)<br/><br>
gene, located on chromosome Xq28, codes for a key protein in assembling large ribosomal subunit and protein synthesis. Two<br/><br>
non-synonymous mutations of RPL10, L206M and H213Q, were identified in four boys with ASD. Moreover, functional studies<br/><br>
of mutant RPL10 in yeast exhibited aberrant ribosomal profiles. These results provided a novel aspect of disease mechanisms<br/><br>
for autism – aberrant processes of ribosome biosynthesis and translation. To confirm these initial findings, we re-sequenced<br/><br>
RPL10 exons and quantified mRNA transcript level of RPL10 in our samples.<br/><br>
<br/><br>
Methods: <br/><br>
141 individuals with ASD were recruited in this study. All RPL10 exons and flanking junctions were sequenced.<br/><br>
Furthermore, mRNA transcript level of RPL10 was quantified in B lymphoblastoid cell lines (BLCL) of 48 patients and 27 controls<br/><br>
using the method of SYBR Green quantitative PCR. Two sets of primer pairs were used to quantify the mRNA expression level<br/><br>
of RPL10: RPL10-A and RPL10-B.<br/><br>
<br/><br>
Results: <br/><br>
No non-synonymous mutations were detected in our cohort. Male controls showed similar transcript level of RPL10<br/><br>
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<br/><br>
difference in RPL10 transcript levels between cases and controls (RPL10-A, U = 531, P = 0.2; RPL10-B, U = 607.5, P = 0.7).<br/><br>
<br/><br>
Conclusion: <br/><br>
Our results suggest that RPL10 has no major effect on the susceptibility to ASD.},
  author       = {Gong, Xiaohong and Delorme, Richard and Fauchereau, Fabien and Durand, Christelle M and Chaste, Pauline and Betancur, Catalina and Goubran-Botros, Hany and Nygren, Gudrun and Anckarsäter, Henrik and Råstam, Maria and Gillberg, I Carina and Kopp, Svenny and Mouren-Simeoni, Marie-Christine and Gillberg, Christopher and Leboyer, Marion and Bourgeron, Thomas},
  issn         = {1471-2350},
  keyword      = {Autistic Disorder/genetics*
Chromosomes,Human,X
Cohort Studies
Exons
Female
Genetic Predisposition to Disease
Humans
Male
Mutation*
RNA,Messenger/genetics
Reverse Transcriptase Polymerase Chain Reaction
Ribosomal Proteins/genetics*
Sequence Analysis,DNA},
  language     = {eng},
  number       = {7},
  publisher    = {BioMed Central},
  series       = {BMC Medical Genetics},
  title        = {An investigation of ribosomal protein L10 gene in autism spectrum disorders},
  url          = {http://dx.doi.org/10.1186/1471-2350-10-7},
  volume       = {10},
  year         = {2009},
}