Analyse der Pathogenese einer neuen autosomal rezessiven Erkrankung mit vorzeitiger Chromosomenkondensation

Applicant Professorin Dr. Heidemarie Neitzel

Subject Area Human Genetics

Term from 2004 to 2011

Project identifier Deutsche Forschungsgemeinschaft (DFG) - Project number 5438723

Final Report Year 2010

Final Report Abstract

No abstract available

(2004) Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet 75:261-266
Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson A
(2005) The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum Mutat. 26:496
Trimborn M, Richter R, Sternberg N, Gavvovidis I, Schindler D, Jackson AP, Prott EC, Sperling K, Gillessen-Kaesbach G, Neitzel H
(2006) Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. Cell Cycle 5:322-326
Trimborn M, Schindler D, Neitzel H, Hirano T
(2006) Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. Nat Cell Biol 8: 725-733
Alderton GK, Galbiati L, Griffith E, Surinya KH, Neitzel H, Jackson AP, Jeggo PA, O'Driscoll M
(2009) Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. J Cell Biol 185:1149-1157
Tibelius A, Marhold J, Zentgraf H, Heilig CE, Neitzel H, Ducommun B, Rauch A, Ho AD, Bartek J, Kramer A
(2010) Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. PLoS One 5:e9242
Trimborn M, Ghani M, Walther DJ, Dopatka M, Dutrannoy V, Busche A, Meyer F, Nowak S, Nowak J, Zabel C, Klose J, Esquitino V, Garshasbi M, Kuss AW, Ropers HH, Mueller S, Poehlmann C, Gavvovidis I, Schindler D, Sperling K, Neitzel H