2011 Fiscal Year Final Research Report
The role of MCPH1, a protein responsible for primary microcephaly, in chromosome condensation
Project/Area Number |
21770196
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Single-year Grants |
Research Field |
Molecular biology
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Research Institution | The Institute of Physical and Chemical Research |
Principal Investigator |
YAMASHITA Daisuke 独立行政法人理化学研究所, 平野染色体ダイナミクス研究室, 基礎科学特別研究員 (50462742)
|
Project Period (FY) |
2009 – 2011
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Keywords | MCPH1 / 染色体凝縮 / コンデンシン / 小頭症 / カエル卵抽出液 / 進化 |
Research Abstract |
Mutations in human MCPH1(hMCPH1) cause primary microcephaly, which is characterized by a marked reduction of brain size. hMCPH1 mutant patient cells display unique cellular phenotypes, including premature chromosome condensation(PCC), in G2 phase. To examine a role of MCPH1 in chromosome condensation, I developed a cell-free assay using Xenopus egg extracts. The results demonstrated that an N-terminal domain of hMCPH1 specifically inhibits the action of condensin II in vitro. A complementation assay using patient cells revealed that the N-terminal domain of hMCPH1 is sufficient to rescue the PCC phenotype. Thus, hMCPH1 acts as a direct modulator of condensin II to regulate chromosome condensation.
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Research Products
(4 results)