3shv: Difference between revisions

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[[Image:3shv.jpg|left|200px]]
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{{STRUCTURE_3shv|  PDB=3shv  |  SCENE=  }}  
{{STRUCTURE_3shv|  PDB=3shv  |  SCENE=  }}  
===Crystal structure of human MCPH1 tandem BRCT domains-gamma H2AX complex===
===Crystal structure of human MCPH1 tandem BRCT domains-gamma H2AX complex===
{{ABSTRACT_PUBMED_22154951}}


==Disease==
[[http://www.uniprot.org/uniprot/MCPH1_HUMAN MCPH1_HUMAN]] Premature chromosome condensation with microcephaly and intellectual deficit;Autosomal recessive primary microcephaly. Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:[http://omim.org/entry/251200 251200]]; also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.<ref>PMID:12046007</ref> <ref>PMID:15199523</ref> <ref>PMID:16211557</ref> 


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==Function==
The line below this paragraph, {{ABSTRACT_PUBMED_22154951}}, adds the Publication Abstract to the page
[[http://www.uniprot.org/uniprot/MCPH1_HUMAN MCPH1_HUMAN]] Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.<ref>PMID:12046007</ref> <ref>PMID:15199523</ref> <ref>PMID:15220350</ref>  [[http://www.uniprot.org/uniprot/H2AX_HUMAN H2AX_HUMAN]] Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Required for checkpoint-mediated arrest of cell cycle progression in response to low doses of ionizing radiation and for efficient repair of DNA double strand breaks (DSBs) specifically when modified by C-terminal phosphorylation.<ref>PMID:10959836</ref> <ref>PMID:12419185</ref> <ref>PMID:12607005</ref> <ref>PMID:15201865</ref> 
(as it appears on PubMed at http://www.pubmed.gov), where 22154951 is the PubMed ID number.
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{{ABSTRACT_PUBMED_22154951}}


==About this Structure==
==About this Structure==
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==Reference==
==Reference==
<ref group="xtra">PMID:022154951</ref><references group="xtra"/>
<ref group="xtra">PMID:022154951</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Li, F D.]]
[[Category: Li, F D.]]
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