Citations for
BRUCE regulates DNA double-strand break response by promoting USP8 deubiquitination of BRIT1.
Ge C, Che L, Ren J, Pandita RK, Lu J, Li K, Pandita TK, Du C.
Proc Natl Acad Sci U S A 112(11):E1210-9. doi: 10.1073/pnas.1418335112. Epub 2015 Mar 2. 2015
Association of microcephalin 1, syntrophin-beta 1, and other genes with automatic thoughts in the Japanese population.
Ishitobi Y, Inoue A, Aizawa S, Masuda K, Ando T, Kawano A, Ikeda R, Maruyama Y, Kanehisa M, Ninomiya T, Tanaka Y, Tsuru J, Akiyoshi J.
Am J Med Genet B Neuropsychiatr Genet 165B(6):492-501. doi: 10.1002/ajmg.b.32252. Epub 2014 Jun 29. 2014
DNA damage response in microcephaly development of MCPH1 mouse model.
Zhou ZW, Tapias A, Bruhn C, Gruber R, Sukchev M, Wang ZQ.
DNA Repair (Amst). 2013
Mcph1-deficient mice reveal a role for MCPH1 in otitis media.
Chen J, Ingham N, Clare S, Raisen C, Vancollie VE, Ismail O, McIntyre RE, Tsang SH, Mahajan VB, Dougan G, Adams DJ, White JK, Steel KP.
PLoS One. 8(3):e58156 2013
MCPH1 protein expression and polymorphisms are associated with risk of breast cancer.
Jo YH, Kim HO, Lee J, Lee SS, Cho CH, Kang IS, Choe WJ, Baik HH, Yoon KS.
Gene. 517(2):184-90. 2013
NEDDylation controls the target specificity of E2F1 and apoptosis induction.
Aoki I, Higuchi M, Gotoh Y.
Oncogene 32(34):3954-64. doi: 10.1038/onc.2012.428. Epub 2012 Sep 24. 2013
Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.
Perche O, Menuet A, Marcos M, Liu L, Pâris A, Utami KH, Kervran D, Cacheux V, Laudier B, Briault S.
Eur J Med Genet 56(11):635-41. doi: 10.1016/j.ejmg.2013.07.007. 2013
Molecular basis for the association of microcephalin (MCPH1) protein with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex.
Singh N, Wiltshire TD, Thompson JR, Mer G, Couch FJ.
J Biol Chem. 287(4):2854-62. 2012
Identification and functional characterization of a primate-specific E2F1 binding motif regulating MCPH1 expression.
Shi L, Su B.
FEBS J. 279(3):491-503. 2012
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.
Leung JW, Leitch A, Wood JL, Shaw-Smith C, Metcalfe K, Bicknell LS, Jackson AP, Chen J.
J Biol Chem 286(24):21393-400. Epub 2011 Apr 22. 2011
MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.
Yamashita D, Shintomi K, Ono T, Gavvovidis I, Schindler D, Neitzel H, Trimborn M, Hirano T.
J Cell Biol 194(6):841-54. Epub 2011 Sep 12. 2011
MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway.
Gruber R, Zhou Z, Sukchev M, Joerss T, Frappart PO, Wang ZQ.
Nat Cell Biol 13(11):1325-34. doi: 10.1038/ncb2342. 2011
BRIT1/MCPH1 expression in chronic myeloid leukemia and its regulation of the G2/M checkpoint.
Giallongo C, Tibullo D, La Cava P, Branca A, Parrinello N, Spina P, Stagno F, Conticello C, Chiarenza A, Vigneri P, Palumbo GA, Di Raimondo F.
Acta Haematol 126(4):205-10. Epub 2011 Sep 16. Erratum in: Acta Haematol. 2011;126(4):210. 2011
Microcephaly genes and risk of late-onset Alzheimer disease.
Erten-Lyons D, Wilmot B, Anur P, McWeeney S, Westaway SK, Silbert L, Kramer P, Kaye J.
Alzheimer Dis Assoc Disord 25(3):276-82. 2011
MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest.
Gavvovidis I, Pöhlmann C, Marchal JA, Stumm M, Yamashita D, Hirano T, Schindler D, Neitzel H, Trimborn M.
Cell Cycle 9(24):4893-9. Epub 2010 Dec 15. 2010
MCPH1/BRIT1 limits ionizing radiation-induced centrosome amplification.
Brown JA, Bourke E, Liptrot C, Dockery P, Morrison CG.
Oncogene 29(40):5537-44. Epub 2010 Jul 26. 2010
BRIT1/MCPH1 is essential for mitotic and meiotic recombination DNA repair and maintaining genomic stability in mice.
Liang Y, Gao H, Lin SY, Peng G, Huang X, Zhang P, Goss JA, Brunicardi FC, Multani AS, Chang S, Li K.
PLoS Genet 6(1):e1000826. 2010
18DUP8P23, MCPH1
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.
Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, Maloney VK, Thomas NS, Bunyan DJ, Jackson A, Barber JC.
Eur J Hum Genet 17(1):37-43. Epub 2008 Aug 20. 2009
TRF2 functions as a protein hub and regulates telomere maintenance by recognizing specific peptide motifs.
Kim H, Lee OH, Xin H, Chen LY, Qin J, Chae HK, Lin SY, Safari A, Liu D, Songyang Z.
Nat Struct Mol Biol 16(4):372-9. Epub 2009 Mar 15. 2009
BRIT1/MCPH1 links chromatin remodelling to DNA damage response.
Peng G, Yim EK, Dai H, Jackson AP, Burgt I, Pan MR, Hu R, Li K, Lin SY.
Nat Cell Biol 11(7):865-72. Epub 2009 Jun 14. 2009
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.
Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L, van den Boogaard MJ, Eleveld MJ, van 't Slot R, Hochstenbach R, Beemer FA, Barrow M, Barber JC, Poot M.
Clin Genet 76(4):348-56.PMID: 19793310 2009
Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1.
Tibelius A, Marhold J, Zentgraf H, Heilig CE, Neitzel H, Ducommun B, Rauch A, Ho AD, Bartek J, Krämer A.
J Cell Biol 185(7):1149-57. Epub 2009 Jun 22. 2009
The linkage of chromatin remodeling to genome maintenance: contribution from a human disease gene BRIT1/MCPH1.
Peng G, Lin SY.
Epigenetics 4(7):457-61. Epub 2009 Oct 8. Review. 2009
Microcephalin regulates BRCA2 and Rad51-associated DNA double-strand break repair.
Wu X, Mondal G, Wang X, Wu J, Yang L, Pankratz VS, Rowley M, Couch FJ.
Cancer Res. 69(13):5531-6. 2009
A common SNP of MCPH1 is associated with cranial volume variation in Chinese population.
Wang JK, Li Y, Su B.
Hum Mol Genet 17(9):1329-35. Epub 2008 Jan 19. 2008
26CHEK1, E2F1, MCPH1
MCPH1/BRIT1 cooperates with E2F1 in the activation of checkpoint, DNA repair and apoptosis.
Yang SZ, Lin FT, Lin WC.
EMBO Rep 9(9):907-15. Epub 2008 Jul 25. 2008
Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair.
Wood JL, Liang Y, Li K, Chen J.
J Biol Chem 283(43):29586-92. Epub 2008 Aug 21. 2008
Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair.
Wood JL, Liang Y, Li K, Chen J.
J Biol Chem 283(43):29586-92. doi: 10.1074/jbc.M804080200. 2008
MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage.
Wood JL, Singh N, Mer G, Chen J.
J Biol Chem 282(48):35416-23. Epub 2007 Oct 9. 2007
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Ruschendorf F, Nurnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H.
Hum Genet 118(6):708-15. Epub 2005 Nov 26. 2006
Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II.
Trimborn M, Schindler D, Neitzel H, Hirano T.
Cell Cycle 5(3):322-6. Epub 2006 Feb 1. 2006
Microcephalin: a causal link between impaired damage response signalling and microcephaly.
O'Driscoll M, Jackson AP, Jeggo PA.
Cell Cycle 5(20):2339-44. Epub 2006 Oct 16. Review. 2006
BRIT1/MCPH1: a guardian of genome and an enemy of tumors.
Chaplet M, Rai R, Jackson-Bernitsas D, Li K, Lin SY.
Cell Cycle 5(22):2579-83. Epub 2006 Nov 15. Review. 2006
BRIT1 regulates early DNA damage response, chromosomal integrity, and cancer.
Rai R, Dai H, Multani AS, Li K, Chin K, Gray J, Lahad JP, Liang J, Mills GB, Meric-Bernstam F, Lin SY.
Cancer Res. 10(2):145-57. 2006
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling.
Alderton GK, Galbiati L, Griffith E, Surinya KH, Neitzel H, Jackson AP, Jeggo PA, O'Driscoll M.
Nat Cell Biol. 8(7):725-33. 2006
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.
Trimborn M, Richter R, Sternberg N, Gavvovidis I, Schindler D, Jackson AP, Prott EC, Sperling K, Gillessen-Kaesbach G, Neitzel H.
Hum Mutat 26(5):496. 2005
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
Woods CG, Bond J, Enard W.
Am J Hum Genet 76(5):717-28. Epub 2005 Mar 31. Review. 2005
BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly.
Lin SY, Rai R, Li K, Xu ZX, Elledge SJ.
Proc Natl Acad Sci U S A. 102(42):15105-9. 2005
Molecular evolution of microcephalin, a gene determining human brain size.
Wang YQ, Su B.
Hum Mol Genet 13(11):1131-7. Epub 2004 Mar 31. 2004
Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size.
Evans PD, Anderson JR, Vallender EJ, Choi SS, Lahn BT.
Hum Mol Genet 13(11):1139-45. Epub 2004 Mar 31. 2004
Mutations in microcephalin cause aberrant regulation of chromosome condensation.
Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP.
Am J Hum Genet 75(2):261-6. Epub 2004 Jun 15. 2004
Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1.
Xu X, Lee J, Stern DF.
J Biol Chem 279(33):34091-4. Epub 2004 Jun 25. 2004
Identification of microcephalin, a protein implicated in determining the size of the human brain.
Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG.
Am J Hum Genet 71(1):136-42. 2002
Primary microcephaly: new approaches for an old disorder.
Dobyns WB.
Am J Med Genet 112(4):315-7. No abstract available. 2002
Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.
Neitzel H, Neumann LM, Schindler D, Wirges A, Tonnies H, Trimborn M, Krebsova A, Richter R, Sperling K.
Am J Hum Genet 70(4):1015-22. Epub 2002 Feb 20. 2002
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.
Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG.
Am J Hum Genet 63 : 541-546. 1998
Molecular cloning of a human gene that regulates chromosome condensation and is essential for cell proliferation.
Kai R, Ohtsubo M, Sekiguchi M, Nishimoto T.
Mol Cell Biol 6(6):2027-32. 1986