Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region

Janine Lamb; E. Bonora; E. Bacchelli; E. R. Levy; F. Blasi; A. Marlow; A. P. Monaco; E. Maestrini; Andrew Pickles; Jonathan Green

doi:10.1038/sj/mp/4001004

Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region

Janine Lamb, E. Bonora, E. Bacchelli, E. R. Levy, F. Blasi, A. Marlow, A. P. Monaco, E. Maestrini, Andrew Pickles, Jonathan Green

Research output: Contribution to journal › Article › peer-review

Abstract

Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify the relevant gene and report the analysis of four adjacent genes localised to a 800 kb region in 7q32 that contains an imprinted domain: PEG1/MEST, COPG2, CPA1 and CPA5 - a previously uncharacterised member of the carboxypeptidase gene family. Screening these genes for DNA changes and association analysis using intragenic single nucleotide polymorphisms (SNPs) provided no evidence for an etiological role in IMGSAC families. We also searched for imprinting mutations potentially implicated in autism: analysis of both DNA methylation and replication timing indicated a normal imprinting regulation of the PEG1/COPG2 domain in blood lymphocytes of all patients tested. The analysis of these four genes strongly suggests that they do not play a major role in autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus.

Original language	English
Pages (from-to)	289-301
Number of pages	12
Journal	Molecular psychiatry
Volume	7
Issue number	3
DOIs	https://doi.org/10.1038/sj/mp/4001004
Publication status	Published - 2002

Keywords

7q32
Autism
Candidate genes
Carboxypeptidase A
COPG2
Imprinting
Methlylation
Mutation screening
PEG1/MEST

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title = "Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region",

abstract = "Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify the relevant gene and report the analysis of four adjacent genes localised to a 800 kb region in 7q32 that contains an imprinted domain: PEG1/MEST, COPG2, CPA1 and CPA5 - a previously uncharacterised member of the carboxypeptidase gene family. Screening these genes for DNA changes and association analysis using intragenic single nucleotide polymorphisms (SNPs) provided no evidence for an etiological role in IMGSAC families. We also searched for imprinting mutations potentially implicated in autism: analysis of both DNA methylation and replication timing indicated a normal imprinting regulation of the PEG1/COPG2 domain in blood lymphocytes of all patients tested. The analysis of these four genes strongly suggests that they do not play a major role in autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus.",

keywords = "7q32, Autism, Candidate genes, Carboxypeptidase A, COPG2, Imprinting, Methlylation, Mutation screening, PEG1/MEST",

author = "Janine Lamb and E. Bonora and E. Bacchelli and Levy, {E. R.} and F. Blasi and A. Marlow and Monaco, {A. P.} and E. Maestrini and Andrew Pickles and Jonathan Green",

year = "2002",

doi = "10.1038/sj/mp/4001004",

language = "English",

volume = "7",

pages = "289--301",

journal = "Molecular psychiatry",

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T1 - Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region

AU - Lamb, Janine

AU - Bonora, E.

AU - Bacchelli, E.

AU - Levy, E. R.

AU - Blasi, F.

AU - Marlow, A.

AU - Monaco, A. P.

AU - Maestrini, E.

AU - Pickles, Andrew

AU - Green, Jonathan

PY - 2002

Y1 - 2002

N2 - Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify the relevant gene and report the analysis of four adjacent genes localised to a 800 kb region in 7q32 that contains an imprinted domain: PEG1/MEST, COPG2, CPA1 and CPA5 - a previously uncharacterised member of the carboxypeptidase gene family. Screening these genes for DNA changes and association analysis using intragenic single nucleotide polymorphisms (SNPs) provided no evidence for an etiological role in IMGSAC families. We also searched for imprinting mutations potentially implicated in autism: analysis of both DNA methylation and replication timing indicated a normal imprinting regulation of the PEG1/COPG2 domain in blood lymphocytes of all patients tested. The analysis of these four genes strongly suggests that they do not play a major role in autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus.

AB - Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify the relevant gene and report the analysis of four adjacent genes localised to a 800 kb region in 7q32 that contains an imprinted domain: PEG1/MEST, COPG2, CPA1 and CPA5 - a previously uncharacterised member of the carboxypeptidase gene family. Screening these genes for DNA changes and association analysis using intragenic single nucleotide polymorphisms (SNPs) provided no evidence for an etiological role in IMGSAC families. We also searched for imprinting mutations potentially implicated in autism: analysis of both DNA methylation and replication timing indicated a normal imprinting regulation of the PEG1/COPG2 domain in blood lymphocytes of all patients tested. The analysis of these four genes strongly suggests that they do not play a major role in autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus.

KW - 7q32

KW - Autism

KW - Candidate genes

KW - Carboxypeptidase A

KW - COPG2

KW - Imprinting

KW - Methlylation

KW - Mutation screening

KW - PEG1/MEST

U2 - 10.1038/sj/mp/4001004

DO - 10.1038/sj/mp/4001004

M3 - Article

C2 - 11920156

SN - 1359-4184

VL - 7

SP - 289

EP - 301

JO - Molecular psychiatry

JF - Molecular psychiatry

IS - 3

ER -

Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region

Abstract

Keywords

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