CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly

Cerebral Cortex

Volumn 23, Issue 9, 2013, Pages 2245-2260

  Issa, Lina ^a   Kraemer, Nadine ^a   Rickert, Christian H ^b   Sifringer, Marco ^a   Ninnemann, Olaf ^a   Stoltenburg Didinger, Gisela ^a   Kaindl, Angela M ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b Vivantes Clinics Friedrichshain   (Germany)

Author keywords

CDK5RAP2; centrosome; MCPH; mental retardation; microcephaly

Indexed keywords

CYCLIN DEPENDENT KINASE 5;

ANIMAL TISSUE; ARTICLE; BRAIN CORTEX; BRAIN DEVELOPMENT; CELL PROLIFERATION; CONTROLLED STUDY; HUMAN; HUMAN TISSUE; MICROCEPHALY; MOUSE; NEUROIMAGING; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION;

CDK5RAP2; CENTROSOME; MCPH; MENTAL RETARDATION; MICROCEPHALY;

ANIMALS; BRAIN; CELL CYCLE PROTEINS; FETUS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MICE; MICROCEPHALY; NERVE TISSUE PROTEINS; NEURONS;

EID: 84876926861     PISSN: 10473211     EISSN: 14602199     Source Type: Journal    
DOI: 10.1093/cercor/bhs212     Document Type: Article

References (40)

1. Alcantara S, Ruiz M, D'Arcangelo G, Ezan F, de Lecea L, Curran T, Sotelo C, Soriano E. 1998. Regional and cellular patterns of reelin mRNA expression in the forebrain of the developing and adult mouse. J Neurosci. 18:7779-7799.
2. Altman J, Bayer SA. 1997. Development of the cerebellar system: in relation to its evolution, structure and functions. New York: CRC Press.
3. Altman J, Bayer SA. 2002. Regional differences in the stratified transitional field and the honeycomb matrix of the developing human cerebral cortex. J Neurocytol. 31:613-632.
4. Angevine JB, Jr. 1965. Time of neuron origin in the hippocampal region. An autoradiographic study in the mouse. Exp Neurol. 32 (Suppl. 2):1-70.
5. Bamatter F, Rabinowicz T. 1969. Study of a familial case of microcephaly and micrencephaly. Clinical and anatomo-pathologic considerations on a preliminary basis. J Genet Hum. 17:247-274.
6. Barrera JA, Kao LR, Hammer RE, Seemann J, Fuchs JL, Megraw TL. 2010. CDK5RAP2 regulates centriole engagement and cohesion in mice. Dev Cell. 18:913-926.
7. Bayer SA, Altman J. 2005. The human brain during the second trimester. Buca Raton (FL): CRC.
8. Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO et al. 2005. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 37:353-355.
9. Buchman JJ, Tseng HC, Zhou Y, Frank CL, Xie Z, Tsai LH. 2010. Cdk5rap2 interacts with pericentrin to maintain the neural progenitor pool in the developing neocortex. Neuron. 66:386-402.
10. Ching YP, Qi Z, Wang JH. 2000. Cloning of three novel neuronal Cdk5 activator binding proteins. Gene. 242:285-294.
11. Das GD. 1976. Differentiation of Bergmann glia cells in the cerebellum: a golgi study. Brain Res. 110:199-213.
12. Forster E, Zhao S, Frotscher M. 2006. Laminating the hippocampus. Nat Rev Neurosci. 7:259-267.
13. Gage FH. 2000. Mammalian neural stem cells. Science. 287:1433-1438.
14. Haubensak W, Attardo A, Denk W, Huttner WB. 2004. Neurons arise in the basal neuroepithelium of the early mammalian telencephalon: a major site of neurogenesis. Proc Natl Acad Sci USA. 101:3196-3201.
15. Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P. 2010. Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol. 90:363-383.
16. Kraemer N, Issa L, Hauck SC, Mani S, Ninnemann O, Kaindl AM. 2011. What's the hype about CDK5RAP2? Cell Mol Life Sci. 68:1719-1736.
17. Leid M, Ishmael JE, Avram D, Shepherd D, Fraulob V, Dolle P. 2004. CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis. Gene Expr Patterns. 4:733-739.
18. Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, Mudbhary R, Barker JE, Walsh CA, Fleming MD. 2010. Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development. 137: 1907-1917.
19. Mahmood S, Ahmad W, Hassan MJ. 2011. Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis. 6:39.
20. Megraw TL, Sharkey JT, Nowakowski RS. 2011. Cdk5rap2 exposes the centrosomal root of microcephaly syndromes. Trends Cell Biol. 21:470-480.
21. Molnar Z, Clowry G. 2012. Cerebral cortical development in rodents and primates. Prog Brain Res. 195:45-70.
22. Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, Turner G, Mueller RF, Lench NJ, Woods CG. 2000. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet. 66:724-727.
23. Nieto M, Monuki ES, Tang H, Imitola J, Haubst N, Khoury SJ, Cunningham J, Gotz M, Walsh CA. 2004. Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex. J Comp Neurol. 479:168-180.
24. Noctor SC, Martinez-Cerdeno V, Ivic L, Kriegstein AR. 2004. Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases. Nat Neurosci. 7:136-144.
25. O'Leary DD, Nakagawa Y. 2002. Patterning centers, regulatory genes and extrinsic mechanisms controlling arealization of the neocortex. Curr Opin Neurobiol. 12:14-25.
26. Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E et al. 2009. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology. 73:962-969.
27. Rakic P. 2009. Evolution of the neocortex: a perspective from developmental biology. Nat Rev Neurosci. 10:724-735.
28. Rakic P, Nowakowski RS. 1981. The time of origin of neurons in the hippocampal region of the rhesus monkey. J Comp Neurol. 196:99-128.
29. Rakic P, Sidman RL. 1970. Histogenesis of cortical layers in human cerebellum, particularly the lamina dissecans. J Comp Neurol. 139:473-500.
30. Robain O, Lyon G. 1972. Familial microcephalies due to cerebral malformation. Anatomical and clinical study. Acta Neuropathol. 20:96-109.
31. Sidman RL, Rakic P. 1973. Neuronal migration, with special reference to developing human brain: a review. Brain Res. 62:1-35.
32. Siller KH, Doe CQ. 2009. Spindle orientation during asymmetric cell division. Nat Cell Biol. 11:365-374.
33. Tarabykin V, Stoykova A, Usman N, Gruss P. 2001. Cortical upper layer neurons derive from the subventricular zone as indicated by Svet1 gene expression. Development. 128:1983-1993.
34. Tarui T, Takahashi T, Nowakowski RS, Hayes NL, Bhide PG, Caviness VS. 2005. Overexpression of p27 Kip 1, probability of cell cycle exit, and laminar destination of neocortical neurons. Cereb Cortex. 15:1343-1355.
35. Thornton GK, Woods CG. 2009. Primary microcephaly: do all roads lead to Rome? Trends Genet. 25:501-510.
36. Volpe JJ. 2009. Cerebellum of the premature infant: rapidly developing, vulnerable, clinically important. J Child Neurol. 24:1085-1104.
37. Wang Z, Wu T, Shi L, Zhang L, Zheng W, Qu JY, Niu R, Qi RZ. 2010. A conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex. J Biol Chem. 285:22658-22665.
38. Wingate RJ. 2001. The rhombic lip and early cerebellar development. Curr Opin Neurobiol. 11:82-88.
39. Woods CG, Bond J, Enard W. 2005. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 76:717-728.
40. Zecevic N, Rakic P. 1976. Differentiation of Purkinje cells and their relationship to other components of developing cerebellar cortex in man. J Comp Neurol. 167:27-47.