(Animal and Human Molecular Genetics Group)

Departamento de Biología Experimental




Molecular basis of primary microcephaly (MCPH).

Contribution of MCPH genes to chromosome division and cell cycle progression.




Primary microcephaly (MCPH) is a rare congenital disorder characterized by a pronounced reduction of brain size and mental retardation. Mutations in MCPH1, one of the genes involved in this syndrome, alter the processes of chromosome condensation and biorientation during mitosis in all cell types. Recent data highlight the importance of MCPH1 also for the functionality of G2/M cell cycle checkpoints. Our research aims to investigate the contribution of MCPH1 and related factors for coupling chromosome division and cell cycle progression. These investigations will add new insights about the importance of this crosstalk in the context of human neurogenesis.


Principal Investigator:



Juan Alberto Marchal Ortega

Profesor Titular de Universidad / Associate Professor

Despacho: Edificio B3-304

Teléfono: +34-953-213361


Researcher ID: K-7963-2012




Antonio Sánchez Baca




Arroyo M, Kuriyama R, Guerrero I, Keifenheim D, Cañuelo A, Calahorra J, Sánchez A, Clarke DJ, Marchal JA. 2019. MCPH1 is essential for cellular adaptation to the G2-phase decatenation checkpoint. FASEB J. 33:8363-8374. PubMed

Heinz KS, Rapp A, Casas-Delucchi CS, Lehmkuhl A, Romero-Fernández I, Sánchez A, Krämer OH, Marchal JA, Cardoso MC. 2019. DNA replication dynamics of vole genome and its epigenetic regulation. Epigenetics Chromatin. 2:18. PubMed

Arroyo M, Kuriyama R, Trimborn M, Keifenheim D, Cañuelo A, Sánchez A, Clarke DJ, Marchal JA. 2017. MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis. Sci Rep. Oct 12;7(1):13019. doi: 10.1038/s41598-017-12793-7. PubMed

Arroyo M, Trimborn M, Sánchez A, Hirano T, Neitzel H, Marchal JA. 2015. Chromosome structure deficiencies in MCPH1 syndrome. Chromosoma  124:491-501. PubMed

Romero-Fernández I, Casas-Delucchi CS, Cano-Linares M, Arroyo M, Sánchez A, Cardoso MC, Marchal JA. 2015. Epigenetic modifications in sex heterochromatin of vole rodents. Chromosoma 124: 341-351. PubMed

Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H.  2011. Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Cell Cycle. Sep 1;10(17):2967-77. doi:10.4161/cc.10.17.16871 PubMed

Gavvovidis I, Pöhlmann C, Marchal JA, Stumm M, Yamashita D, Hirano T, Schindler D, Neitzel H, Trimborn M. 2010. MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest.  Cell Cycle. Dec 15;9(24):4893-9. doi:10.4161/cc.9.24.14157 PubMed
























Pagina mantenida por

Pedro Lorite Martínez

Universidad de Jaén

Departamento de Biología Experimental

Área de Genética

Tfn: +34 953 212769