Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia
A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10−7) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 SCZ participants and 1,820 normal comparison subjects. We report evidence...
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| Published in | American journal of medical genetics. Part B, Neuropsychiatric genetics Vol. 180; no. 4; pp. 258 - 265 |
|---|---|
| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Hoboken, USA
John Wiley & Sons, Inc
01.06.2019
Wiley Subscription Services, Inc |
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| Online Access | Get full text |
| ISSN | 1552-4841 1552-485X 1552-485X |
| DOI | 10.1002/ajmg.b.32722 |
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| Abstract | A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10−7) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 SCZ participants and 1,820 normal comparison subjects. We report evidence for association of rs61749465A>G with BPD (p = 0.0009). rs61749465 is located in the N‐terminal of the BRCT1 domain of MCPH1. Bioinformatic analysis predicted the Asp61Gly substitution to be damaging to MCPH1 function. A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here. We sought to characterize the functional effects of these variants on MCPH1 function. Cell count assays indicated that rs199422124 allele G had a greater impact on cell survival compared to the G allele of rs61749465. Gene expression analysis combined with gene network and pathway analysis indicated that rs61749465 allele G may impact protein translation and cell cycle control.
The evidence for association between rs61749465A>G and psychosis in both BPD and SCZ warrants further replication. Likewise, the data from the functional analyses point to molecular mechanisms that may underlie the proposed MCPH1 mediated risk of psychosis and pathogenesis in autosomal recessive microcephaly require additional experimental validation. |
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| AbstractList | A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10−7) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 SCZ participants and 1,820 normal comparison subjects. We report evidence for association of rs61749465A>G with BPD (p = 0.0009). rs61749465 is located in the N‐terminal of the BRCT1 domain of MCPH1. Bioinformatic analysis predicted the Asp61Gly substitution to be damaging to MCPH1 function. A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here. We sought to characterize the functional effects of these variants on MCPH1 function. Cell count assays indicated that rs199422124 allele G had a greater impact on cell survival compared to the G allele of rs61749465. Gene expression analysis combined with gene network and pathway analysis indicated that rs61749465 allele G may impact protein translation and cell cycle control.
The evidence for association between rs61749465A>G and psychosis in both BPD and SCZ warrants further replication. Likewise, the data from the functional analyses point to molecular mechanisms that may underlie the proposed MCPH1 mediated risk of psychosis and pathogenesis in autosomal recessive microcephaly require additional experimental validation. A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10−7) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 SCZ participants and 1,820 normal comparison subjects. We report evidence for association of rs61749465A>G with BPD (p = 0.0009). rs61749465 is located in the N‐terminal of the BRCT1 domain of MCPH1. Bioinformatic analysis predicted the Asp61Gly substitution to be damaging to MCPH1 function. A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here. We sought to characterize the functional effects of these variants on MCPH1 function. Cell count assays indicated that rs199422124 allele G had a greater impact on cell survival compared to the G allele of rs61749465. Gene expression analysis combined with gene network and pathway analysis indicated that rs61749465 allele G may impact protein translation and cell cycle control.The evidence for association between rs61749465A>G and psychosis in both BPD and SCZ warrants further replication. Likewise, the data from the functional analyses point to molecular mechanisms that may underlie the proposed MCPH1 mediated risk of psychosis and pathogenesis in autosomal recessive microcephaly require additional experimental validation. A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10-7 ) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 SCZ participants and 1,820 normal comparison subjects. We report evidence for association of rs61749465A>G with BPD (p = 0.0009). rs61749465 is located in the N-terminal of the BRCT1 domain of MCPH1. Bioinformatic analysis predicted the Asp61Gly substitution to be damaging to MCPH1 function. A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here. We sought to characterize the functional effects of these variants on MCPH1 function. Cell count assays indicated that rs199422124 allele G had a greater impact on cell survival compared to the G allele of rs61749465. Gene expression analysis combined with gene network and pathway analysis indicated that rs61749465 allele G may impact protein translation and cell cycle control. The evidence for association between rs61749465A>G and psychosis in both BPD and SCZ warrants further replication. Likewise, the data from the functional analyses point to molecular mechanisms that may underlie the proposed MCPH1 mediated risk of psychosis and pathogenesis in autosomal recessive microcephaly require additional experimental validation.A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10-7 ) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 SCZ participants and 1,820 normal comparison subjects. We report evidence for association of rs61749465A>G with BPD (p = 0.0009). rs61749465 is located in the N-terminal of the BRCT1 domain of MCPH1. Bioinformatic analysis predicted the Asp61Gly substitution to be damaging to MCPH1 function. A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here. We sought to characterize the functional effects of these variants on MCPH1 function. Cell count assays indicated that rs199422124 allele G had a greater impact on cell survival compared to the G allele of rs61749465. Gene expression analysis combined with gene network and pathway analysis indicated that rs61749465 allele G may impact protein translation and cell cycle control. The evidence for association between rs61749465A>G and psychosis in both BPD and SCZ warrants further replication. Likewise, the data from the functional analyses point to molecular mechanisms that may underlie the proposed MCPH1 mediated risk of psychosis and pathogenesis in autosomal recessive microcephaly require additional experimental validation. A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10 ) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 SCZ participants and 1,820 normal comparison subjects. We report evidence for association of rs61749465A>G with BPD (p = 0.0009). rs61749465 is located in the N-terminal of the BRCT1 domain of MCPH1. Bioinformatic analysis predicted the Asp61Gly substitution to be damaging to MCPH1 function. A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here. We sought to characterize the functional effects of these variants on MCPH1 function. Cell count assays indicated that rs199422124 allele G had a greater impact on cell survival compared to the G allele of rs61749465. Gene expression analysis combined with gene network and pathway analysis indicated that rs61749465 allele G may impact protein translation and cell cycle control. The evidence for association between rs61749465A>G and psychosis in both BPD and SCZ warrants further replication. Likewise, the data from the functional analyses point to molecular mechanisms that may underlie the proposed MCPH1 mediated risk of psychosis and pathogenesis in autosomal recessive microcephaly require additional experimental validation. A rare microcephalin 1 gene ( MCPH1 ) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia ( p = 3.78 × 10 −7 ) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 SCZ participants and 1,820 normal comparison subjects. We report evidence for association of rs61749465A>G with BPD ( p = 0.0009). rs61749465 is located in the N‐terminal of the BRCT1 domain of MCPH1. Bioinformatic analysis predicted the Asp61Gly substitution to be damaging to MCPH1 function. A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here. We sought to characterize the functional effects of these variants on MCPH1 function. Cell count assays indicated that rs199422124 allele G had a greater impact on cell survival compared to the G allele of rs61749465. Gene expression analysis combined with gene network and pathway analysis indicated that rs61749465 allele G may impact protein translation and cell cycle control. The evidence for association between rs61749465A>G and psychosis in both BPD and SCZ warrants further replication. Likewise, the data from the functional analyses point to molecular mechanisms that may underlie the proposed MCPH1 mediated risk of psychosis and pathogenesis in autosomal recessive microcephaly require additional experimental validation. A rare microcephalin 1 gene ( MCPH1 ) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p=3.78x10 −7 ; Leonenko et al., 2017 ) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 SCZ participants and 1,820 normal comparison subjects. We report evidence for association of rs61749465A>G with BPD (P=0.0009). rs61749465 is located in the N-terminal of the BRCT1 domain of MCPH1. Bioinformatic analysis predicted the Asp61Gly substitution to be damaging to MCPH1 function. A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here. We sought to characterize the functional effects of these variants on MCPH1 function. Cell count assays indicated that rs199422124 allele G had a greater impact on cell survival compared to the G allele of rs61749465. Gene expression analysis combined with gene network and pathway analysis indicated that rs61749465 allele G may impact protein translation and cell cycle control. The evidence for association between rs61749465A>G and psychosis in both BPD and SCZ warrants further replication. Likewise, the data from the functional analyses point to molecular mechanisms that may underlie the proposed MCPH1 mediated risk of psychosis and pathogenesis in autosomal recessive microcephaly require additional experimental validation. |
| Author | O'Brien, Niamh L. Sharp, Sally I. Fiorentino, Alessia Bass, Nicholas J. Al Eissa, Mariam M. McQuillin, Andrew Curtis, David |
| AuthorAffiliation | 1 Molecular Psychiatry Laboratory, Division of Psychiatry, University College London, Rockefeller Building, 21 University Street, London WC1E 6BT, UK 2 UCL Genetics Institute, UCL, Darwin Building, Gower Street, London, WC1E, 6BT, UK |
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| Author_xml | – sequence: 1 givenname: Mariam M. surname: Al Eissa fullname: Al Eissa, Mariam M. organization: University College London – sequence: 2 givenname: Sally I. surname: Sharp fullname: Sharp, Sally I. organization: University College London – sequence: 3 givenname: Niamh L. surname: O'Brien fullname: O'Brien, Niamh L. organization: University College London – sequence: 4 givenname: Alessia surname: Fiorentino fullname: Fiorentino, Alessia organization: University College London – sequence: 5 givenname: Nicholas J. surname: Bass fullname: Bass, Nicholas J. organization: University College London – sequence: 6 givenname: David surname: Curtis fullname: Curtis, David – sequence: 7 givenname: Andrew orcidid: 0000-0003-1567-2240 surname: McQuillin fullname: McQuillin, Andrew email: a.mcquillin@ucl.ac.uk organization: Department of Genetics, Evolution and Environment, UCL Genetics Institute, University College London |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30859703$$D View this record in MEDLINE/PubMed |
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| Keywords | RNA sequencing allelic association bipolar disorder schizophrenia MCPH1 |
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| Notes | Funding information Medical Research Council, Grant/Award Numbers: G0500791, G0701007, G0801038, G1000708, G9623693N; Stanley Center for Psychiatric Research at the Broad Institute; Stanley Medical Research Institute; Swedish Research Council, Grant/Award Numbers: 2011‐4659, 2009‐4959; Stanley Medical Research Institute; National Institute of Mental Health, Grant/Award Numbers: RCMH089905, R01MH077139; Wellcome Trust, Grant/Award Number: WT091310; University College London Hospitals NHS Foundation Trust NIHR BRC; Neuroscience Research Charitable Trust; Stanley Foundation; PhD Studentship scholarship from the Kingdom of Saudi Arabia, Ministry of Health, Grant/Award Number: PhD Studentship scholarship ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 |
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| Snippet | A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10−7) was tested for... A rare microcephalin 1 gene ( MCPH1 ) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia ( p = 3.78 × 10 −7 ) was tested... A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10 ) was tested for... A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10-7 ) was tested for... A rare microcephalin 1 gene ( MCPH1 ) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p=3.78x10 −7 ; Leonenko et... |
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| SubjectTerms | Alleles allelic association Bipolar disorder Bipolar Disorder - genetics Cell cycle Cell Cycle Proteins - genetics Cell survival Cytoskeletal Proteins - genetics DNA Damage - genetics Gene expression Gene Expression Regulation Genetic Association Studies Genetic Predisposition to Disease Genetic Variation Genetics HEK293 Cells Humans MCPH1 Mental disorders Microcephaly Microencephaly Molecular modelling Psychosis RNA sequencing RNA Stability - genetics RNA, Messenger - genetics RNA, Messenger - metabolism Schizophrenia Schizophrenia - genetics |
| Title | Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia |
| URI | https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fajmg.b.32722 https://www.ncbi.nlm.nih.gov/pubmed/30859703 https://www.proquest.com/docview/2220129388 https://www.proquest.com/docview/2190485674 https://pubmed.ncbi.nlm.nih.gov/PMC8005923 |
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