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==Clinical significance== |
==Clinical significance== |
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Mutations in the ''PCM1'' gene have been shown to cause genetic susceptibility to [[schizophrenia]]. If an isoleucine amino acid change in PCM1 is inherited the risk of developing schizophrenia |
Mutations in the ''PCM1'' gene have been shown to cause genetic susceptibility to [[schizophrenia]]. If an isoleucine amino acid change in PCM1 is inherited the risk of developing schizophrenia was found to be 68% in two independent samples from south England and Scotland. This means that it may now be possible to offer very limited [[genetic counselling]] to a small proportion of people with schizophrenia who are aslo carriers of this mutation.<ref name="pmid19048012">{{cite journal | author = Datta SR, McQuillin A, Rizig M, Blaveri E, Thirumalai S, Kalsi G, Lawrence J, Bass NJ, Puri V, Choudhury K, Pimm J, Crombie C, Fraser G, Walker N, Curtis D, Zvelebil M, Pereira A, Kandaswamy R, St Clair D, Gurling HM | title = A threonine to isoleucine missense mutation in the pericentriolar material 1 gene is strongly associated with schizophrenia | journal = Mol. Psychiatry | volume = | issue = | pages = | year = 2008 | month = December | pmid = 19048012 | doi = 10.1038/mp.2008.128 | url = | issn = }}</ref><ref name="pmid16894060">{{cite journal | author = Gurling HM, Critchley H, Datta SR, McQuillin A, Blaveri E, Thirumalai S, Pimm J, Krasucki R, Kalsi G, Quested D, Lawrence J, Bass N, Choudhury K, Puri V, O'Daly O, Curtis D, Blackwood D, Muir W, Malhotra AK, Buchanan RW, Good CD, Frackowiak RS, Dolan RJ | title = Genetic association and brain morphology studies and the chromosome 8p22 pericentriolar material 1 (PCM1) gene in susceptibility to schizophrenia | journal = Arch. Gen. Psychiatry | volume = 63 | issue = 8 | pages = 844–54 | year = 2006 | month = August | pmid = 16894060 | doi = 10.1001/archpsyc.63.8.844 | url = | issn = }}</ref> |
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PCM1 forms a complex at the [[centrosome]] with disrupted-in-schizophrenia 1 ([[DISC1]]) and Bardet-Biedl syndrome 4 protein ([[BBS4]]), which provides a link between aberrant PCM1 and the abnormal cortical development associated with the pathology of schizophrenia.<ref name="pmid18762586">{{cite journal | author = Kamiya A, Tan PL, Kubo K, Engelhard C, Ishizuka K, Kubo A, Tsukita S, Pulver AE, Nakajima K, Cascella NG, Katsanis N, Sawa A | title = Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses | journal = Arch. Gen. Psychiatry | volume = 65 | issue = 9 | pages = 996–1006 | year = 2008 | month = September | pmid = 18762586 | doi = 10.1001/archpsyc.65.9.996 | url = | issn = }}</ref> |
PCM1 forms a complex at the [[centrosome]] with disrupted-in-schizophrenia 1 ([[DISC1]]) and Bardet-Biedl syndrome 4 protein ([[BBS4]]), which provides a link between aberrant PCM1 and the abnormal cortical development associated with the pathology of schizophrenia.<ref name="pmid18762586">{{cite journal | author = Kamiya A, Tan PL, Kubo K, Engelhard C, Ishizuka K, Kubo A, Tsukita S, Pulver AE, Nakajima K, Cascella NG, Katsanis N, Sawa A | title = Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses | journal = Arch. Gen. Psychiatry | volume = 65 | issue = 9 | pages = 996–1006 | year = 2008 | month = September | pmid = 18762586 | doi = 10.1001/archpsyc.65.9.996 | url = | issn = }}</ref> |
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Revision as of 14:59, 30 April 2009
Template:PBB Pericentriolar material 1, also known as PCM1, is a protein which in humans is encoded by the PCM1 gene.[1][2][3]
Clinical significance
Mutations in the PCM1 gene have been shown to cause genetic susceptibility to schizophrenia. If an isoleucine amino acid change in PCM1 is inherited the risk of developing schizophrenia was found to be 68% in two independent samples from south England and Scotland. This means that it may now be possible to offer very limited genetic counselling to a small proportion of people with schizophrenia who are aslo carriers of this mutation.[4][5]
PCM1 forms a complex at the centrosome with disrupted-in-schizophrenia 1 (DISC1) and Bardet-Biedl syndrome 4 protein (BBS4), which provides a link between aberrant PCM1 and the abnormal cortical development associated with the pathology of schizophrenia.[6]
References
- ^ "Entrez Gene: PCM1 pericentriolar material 1".
- ^ Balczon R, Bao L, Zimmer WE (1994). "PCM-1, A 228-kD centrosome autoantigen with a distinct cell cycle distribution". J. Cell Biol. 124 (5): 783–93. doi:10.1083/jcb.124.5.783. PMC 2119948. PMID 8120099.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Hames RS, Crookes RE, Straatman KR, Merdes A, Hayes MJ, Faragher AJ, Fry AM (2005). "Dynamic recruitment of Nek2 kinase to the centrosome involves microtubules, PCM-1, and localized proteasomal degradation". Mol. Biol. Cell. 16 (4): 1711–24. doi:10.1091/mbc.E04-08-0688. PMC 1073654. PMID 15659651.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Datta SR, McQuillin A, Rizig M, Blaveri E, Thirumalai S, Kalsi G, Lawrence J, Bass NJ, Puri V, Choudhury K, Pimm J, Crombie C, Fraser G, Walker N, Curtis D, Zvelebil M, Pereira A, Kandaswamy R, St Clair D, Gurling HM (2008). "A threonine to isoleucine missense mutation in the pericentriolar material 1 gene is strongly associated with schizophrenia". Mol. Psychiatry. doi:10.1038/mp.2008.128. PMID 19048012.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Gurling HM, Critchley H, Datta SR, McQuillin A, Blaveri E, Thirumalai S, Pimm J, Krasucki R, Kalsi G, Quested D, Lawrence J, Bass N, Choudhury K, Puri V, O'Daly O, Curtis D, Blackwood D, Muir W, Malhotra AK, Buchanan RW, Good CD, Frackowiak RS, Dolan RJ (2006). "Genetic association and brain morphology studies and the chromosome 8p22 pericentriolar material 1 (PCM1) gene in susceptibility to schizophrenia". Arch. Gen. Psychiatry. 63 (8): 844–54. doi:10.1001/archpsyc.63.8.844. PMID 16894060.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Kamiya A, Tan PL, Kubo K, Engelhard C, Ishizuka K, Kubo A, Tsukita S, Pulver AE, Nakajima K, Cascella NG, Katsanis N, Sawa A (2008). "Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses". Arch. Gen. Psychiatry. 65 (9): 996–1006. doi:10.1001/archpsyc.65.9.996. PMID 18762586.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
Further reading
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