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Microcephalin 1

MCPH1, Microcephalin, BRIT1
This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] (from NCBI)
Top mentioned proteins: ASPM, CAN, Iris, C48, LAP
Papers on MCPH1
Expression of proteins involved in DNA damage response in familial and sporadic breast cancer patients.
Mangia et al., Bari, Italy. In Int J Cancer, Feb 2016
We aimed to assess the different roles of BRCA1, poly(ADP-ribose) polymerase-1 (PARP1), BRCT-repeat inhibitor of hTERT expression (BRIT1) and novel SWItch 5 (SWI5) expression in 130 sporadic and 73 familial BC samples, by immunohistochemistry.
Refining the phenotype associated with CASC5 mutation.
Colleaux et al., Algiers, Algeria. In Neurogenetics, Jan 2016
So far, 12 genetic loci (MCPH1-12) and corresponding genes have been identified.
High-density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.
Grunewald et al., Stockholm, Sweden. In Am J Respir Crit Care Med, Jan 2016
Outside the MHC region, two LS-associated loci, in ADCY3 and between CSMD1 and MCPH1 were observed and replicated.
A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.
Miryounesi et al., Tehrān, Iran. In Gene, Nov 2015
Mutations in MCPH1, which encodes the protein microcephalin have been detected in this disorder.
MCPH1: a window into brain development and evolution.
Nardelli et al., Sydney, Australia. In Front Cell Neurosci, 2014
In this context, causative genes of human autosomal recessive primary microcephaly, such as ASPM and MCPH1, are attractive candidates, as many of them show positive selection during primate evolution.
Molecular genetics of human primary microcephaly: an overview.
Saleh Jamal et al., In Bmc Med Genomics, 2014
Twelve MCPH loci (MCPH1-MCPH12) have been mapped to date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1 and CDK6.
The UBC Domain Is Required for BRUCE to Promote BRIT1/MCPH1 Function in DSB Signaling and Repair Post Formation of BRUCE-USP8-BRIT1 Complex.
Du et al., Cincinnati, United States. In Plos One, 2014
It acts as a scaffold to tether USP8 and BRIT1, together they form a nuclear BRUCE-USP8-BRIT1 complex, where BRUCE holds K63-ubiquitinated BRIT1 from access to DSB in unstressed cells.
The genome in three dimensions: a new frontier in human brain research.
Akbarian et al., Worcester, United States. In Biol Psychiatry, 2014
We introduce chromosome conformation capture protocols for brain and compare higher-order chromatin structures at the chromosome 6p22.2-22.1 schizophrenia and bipolar disorder susceptibility locus, and additional neurodevelopmental risk genes, (DPP10, MCPH1) in adult prefrontal cortex and various cell culture systems, including neurons derived from reprogrammed skin cells.
Emerging roles of MCPH1: expedition from primary microcephaly to cancer.
Suresh et al., Bengaluru, India. In Eur J Cell Biol, 2014
Genetic mutations in microcephalin1 (MCPH1) cause primary autosomal recessive microcephaly which is characterized by a marked reduction in brain size.
MCPH1/BRIT1 represses transcription of the human telomerase reverse transcriptase gene.
Su et al., Kunming, China. In Gene, 2012
It was shown that MCPH1 directly binds to the promoter of human telomerase reverse transcriptase and represses telomerase activity. An intact N terminal BRCT domain was essential for the proper inhibiting function of MCPH1.
Identification and functional characterization of a primate-specific E2F1 binding motif regulating MCPH1 expression.
Su et al., Kunming, China. In Febs J, 2012
The MCPH1 promoter region was sequenced in human, chimpanzee and rhesus macaque; sequence comparison of vertebrate species suggested that the identified E2F1 binding motif is primate specific.
Specific recognition of phosphorylated tail of H2AX by the tandem BRCT domains of MCPH1 revealed by complex structure.
Shi et al., Hefei, China. In J Struct Biol, 2012
the crystal structures of MCPH1 natural variant (A761) C-terminal tandem BRCT domains alone as well as in complex with gammaH2AX tail
Molecular basis for the association of microcephalin (MCPH1) protein with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex.
Couch et al., Rochester, United States. In J Biol Chem, 2012
the biochemical, structural, and cellular determinants of the novel interaction between MCPH1 and Cdc27 and suggest that this interaction may occur within the larger context of MCPH1-APC/C.
MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway.
Wang et al., Jena, Germany. In Nat Cell Biol, 2011
Primary microcephaly 1 is a neurodevelopmental disorder caused by mutations in the MCPH1 gene, whose product MCPH1 (also known as microcephalin and BRIT1) regulates DNA-damage response.
BRIT1/MCPH1 expression in chronic myeloid leukemia and its regulation of the G2/M checkpoint.
Di Raimondo et al., Catania, Italy. In Acta Haematol, 2010
MCPH1 expression is downregulated in blood cells of CML patients compared to control subjects; this downregulation is independent of BCR/ABL. CML cells exhibit defective G2/M arrest; data confirm role of MCPH1 as regulator of G2/M checkpoint.
Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.
Bourgeron et al., Utrecht, Netherlands. In Cytogenet Genome Res, 2010
We illustrate some of these mechanisms with a detailed analysis of recent studies of CNVs involving MCPH1, AUTS2, CNTNAP2, and mutations in GRIN2B.
BRIT1/MCPH1 links chromatin remodelling to DNA damage response.
Lin et al., Houston, United States. In Nat Cell Biol, 2009
The findings therefore identify BRIT1 as a key molecule that links chromatin remodelling with response to DNA damage in the control of DNA repair, and its dysfunction contributes to human disease.
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Reis et al., Erlangen, Germany. In Science, 2008
Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ).
Comment on papers by Evans et al. and Mekel-Bobrov et al. on Evidence for Positive Selection of MCPH1 and ASPM.
Enard et al., Bristol, United Kingdom. In Science, 2007
Evans et al. and Mekel-Bobrov et al. (Reports, 9 September 2005, p. 1717 and 1720, respectively) reported that human genetic variants of Microcephalin (MCPH1) and abnormal spindle-like microcephaly associated (ASPM) are under strong positive selection.
Microcephalin guards against small brains, genetic instability, and cancer.
Bartek, Copenhagen, Denmark. In Cancer Cell, 2006
Through its roles in cell cycle control and DNA damage response, microcephalin (also known as BRIT1 or MCPH1) has been implicated in fundamental biological processes, including regulation of brain size and maintenance of genomic integrity.
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