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Hereditas(Beijing) >

2019 , Vol. 41 >Issue 10: 905 - 918

DOI: https://doi.org/10.16288/j.yczz.19-070

Review

Update on autosomal recessive primary microcephaly (MCPH)-associated proteins

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  • College of Biological Science and Engineering, Fuzhou University, Fuzhou 350108, China

Received date: 2019-04-18

  Revised date: 2019-05-15

  Online published: 2019-06-04

Supported by

Supported by the Natural Science Foundation of the Fujian Province No.(2018J01730)

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Abstract

Brain development diseases refer to a group of diseases that affect the development of the brain or the central nervous system. Autosomal recessive primary microcephaly (MCPH) is a typical neurodevelopmental disorder characterized by a decreased brain size, mental retardation and abnormal behaviors. To date, at least 25 genes have been discovered to cause MCPH when mutated. These genes were named MCPH1-25 according to the discovery order. MCPH proteins play important roles in regulating brain developmental signaling pathways. Here, we provide a timely review of the expression patterns, cellular localization, molecular functions, phenotypes, as well as animal models of these 25 MCPH proteins that will expedite our understanding of the pathogenesis of brain disorders at both molecular and cellular levels.

Key words： microcephaly; expression pattern; cellular component; phenotype overview; molecular function; animal models

Cite this article

Yujie Wang, Xiaokun Zhou, Dan Xu . Update on autosomal recessive primary microcephaly (MCPH)-associated proteins[J]. Hereditas(Beijing), 2019 , 41(10) : 905 -918 . DOI: 10.16288/j.yczz.19-070

References

[1] Thornton GK, Woods CG . Primary microcephaly: do all roads lead to Rome? Trends Genet, 2009,25(11):501-510.
[2] Kang EC, Burdick KE, Kim JY, Duan X, Guo JU, Sailor KA, Jung DE, Ganesan S, Choi S, Pradhan D, Lu B, Avramopoulos D, Christian K, Malhotra AK, Song HJ, Ming GL . Interaction between FEZ1 and DISC1 in regulation of neuronal development and risk for schizophrenia. Neuron, 2011,72(4):559-571.
[3] Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P . Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol, 2010,90(3):363-383.
[4] Gleeson JG . Neuronal migration disorders. Ment Retard Dev Disabil Res Rev, 2001,7(3):167-171.
[5] Zhang H, Kang E, Wang Y, Yang C, Yu H, Wang Q, Chen Z, Zhang C, Christian KM, Song H, Ming GL, Xu Z . Brain-specific Crmp2 deletion leads to neuronal development deficits and behavioural impairments in mice. Nat Commun, 2016,7.
[6] Kim JY, Liu CY, Zhang FY, Duan X, Wen ZX, Song J, Feighery E, Lu B, Rujescu D, St Clair D, Christian K, Callicott JH, Weinberger DR, Song HJ, Ming GL . Interplay between DISC1 and GABA signaling regulates neurogenesis in Mice and Risk for schizophrenia. Cell, 2012,148(5):1051-1064.
[7] Dang T, Duan WY, Yu B, Tong DL, Cheng C, Zhang YF, Wu W, Ye K, Zhang WX, Wu M, Wu BB, An Y, Qiu ZL, Wu BL . Autism-associated dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development. Mol Psychiatry, 2018,23(3):747-758.
[8] Mahmood S, Ahmad W, Hassan MJ . Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis, 2011,6:39.
[9] Woods CG, Parker A . Investigating microcephaly. Arch Dis Child, 2013,98(9):707-713.
[10] McDonell LM, Warman Chardon J, Schwartzentruber J, Foster D, Beaulieu CL, FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM . The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome. BMC Neurol, 2014,14:22.
[11] Kruger RP . Zika virus on the move. Cell, 2016,164(4):585-587.
[12] Miner JJ, Cao B, Govero J, Smith AM, Fernandez E, Cabrera OH, Garber C, Noll M, Klein RS, Noguchi KK, Mysorekar IU, Diamond MS . Zika virus infection during pregnancy in mice causes placental damage and fetal demise. Cell, 2016,165(5):1081-1091.
[13] Li C, Xu D, Ye Q, Hong S, Jiang YS, Liu X, Zhang N, Shi L, Qin CF, Xu Z . Zika virus disrupts neural progenitor development and leads to microcephaly in mice. Cell Stem Cell, 2016,19(5):120-126.
[14] Cugola FR, Fernandes IR, Russo FB, Freitas BC
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