What question did this study set out to answer?

Determine whether genetic alterations within the refined 1.5-Mb 22q11 microdeletion region, particularly at the PRODH2/DGCR6 locus, confer susceptibility to schizophrenia.

March 12, 2002Proceedings of the National Academy of SciencesOpen Access

Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia

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Authors

HLHui LiuHebei University of Chinese Medicine SHSimon HeathSouth African Medical Research Council CSChristina SobinThe University of Texas at El Paso

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Implication

Genetic analysis reveals unusual PRODH2/DGCR6 variation in schizophrenia cohorts, suggesting pseudogene-like missense mutations compromise enzyme function and heighten disease risk.

Key Points

Determine whether genetic alterations within the refined 1.5-Mb 22q11 microdeletion region, particularly at the PRODH2/DGCR6 locus, confer susceptibility to schizophrenia.
Analyzed polymorphic markers to refine the schizophrenia susceptibility region on chromosome 22q11 to approximately 1.5 Mb.
Screened for PRODH2/DGCR6 sequence variations across three independent schizophrenia cohorts, including patients with childhood-onset schizophrenia.
Demonstrated significant genetic contributions of the 22q11 PRODH2/DGCR6 locus to schizophrenia susceptibility across all three independent patient samples.
Identified an atypical variation pattern in PRODH2 that mirrors the sequence of an adjacent pseudogene.
Detected several pseudogene-like missense mutations at conserved residues predicted to disrupt the synthesis of fully functional enzyme.

Cite This Study

Liu et al. (2002) studied this question.

synapsesocial.com/papers/6a029e04bc3ffe278e6511e2 https://doi.org/10.1073/pnas.042700699

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Implication

Genetic analysis reveals unusual PRODH2/DGCR6 variation in schizophrenia cohorts, suggesting pseudogene-like missense mutations compromise enzyme function and heighten disease risk.

Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia

Discussion

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Implication

Key Points

Cite This Study

Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia

Discussion

Member takes

Implication

Key Points

Cite This Study

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