Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort

NeuroImage

Volumn 37, Issue 2, 2007, Pages 394-400

  Dobson Stone, C ^a,b,c   Gatt, J M ^d,e   Kuan, S A ^d,e   Grieve, S M ^f   Gordon, E ^d,e,f   Williams, L M ^d,e   Schofield, P R ^a,b,c  

^a GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d WESTMEAD HOSPITAL   (Australia)

^e UNIVERSITY OF SYDNEY   (Australia)

^f Brain Resource International Database   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ABNORMAL SPINDLE LIKE MICROCEPHALY ASSOCIATED GENE; ADULT; AGED; ARTICLE; BRAIN CORTEX; BRAIN SIZE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE; GENE DOSAGE; GENE FREQUENCY; GENOTYPE; GRAY MATTER; HUMAN; HUMAN EXPERIMENT; MALE; MICROCEPHALIN GENE; NEUROIMAGING; NORMAL HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; BRAIN; CHILD; EVOLUTION; FEMALE; GENOTYPE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; MIDDLE AGED; NERVE TISSUE PROTEINS; ORGAN SIZE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 34648825300     PISSN: 10538119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuroimage.2007.05.011     Document Type: Article

References (41)

1. Ashburner J., and Friston K.J. Voxel-based morphometry - the methods. NeuroImage 11 (2000) 805-821
2. Baare W.F., Hulshoff Pol H.E., Boomsma D.I., Posthuma D., de Geus E.J., Schnack H.G., van Haren N.E., van Oel C.J., and Kahn R.S. Quantitative genetic modeling of variation in human brain morphology. Cereb. Cortex 11 (2001) 816-824
3. Baddeley A., Emslie H., and Nimmo-Smith I. The Spot-the-Word test: a robust estimate of verbal intelligence based on lexical decision. Br. J. Clin. Psychol. 32 Pt 1 (1993) 55-65
4. Bond J., Roberts E., Mochida G.H., Hampshire D.J., Scott S., Askham J.M., Springell K., Mahadevan M., Crow Y.J., Markham A.F., Walsh C.A., and Woods C.G. ASPM is a major determinant of cerebral cortical size. Nat. Genet. 32 (2002) 316-320
5. Bouchard Jr. T.J., and McGue M. Genetic and environmental influences on human psychological differences. J. Neurobiol. 54 (2003) 4-45
6. Clark D.A., Mitra P.P., and Wang S.S.H. Scalable architecture in mammalian brains. Nature 411 (2001) 189-193
7. Currat M., Excoffier L., Maddison W., Otto S.P., Ray N., Whitlock M.C., and Yeaman S. Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens" and "Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans". Science 313 (2006) 172
8. Evans P.D., Anderson J.R., Vallender E.J., Choi S.S., and Lahn B.T. Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. Hum. Mol. Genet. 13 (2004) 1139-1145
9. Evans P.D., Anderson J.R., Vallender E.J., Gilbert S.L., Malcom C.M., Dorus S., and Lahn B.T. Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans. Hum. Mol. Genet. 13 (2004) 489-494
10. Evans P.D., Gilbert S.L., Mekel-Bobrov N., Vallender E.J., Anderson J.R., Vaez-Azizi L.M., Tishkoff S.A., Hudson R.R., and Lahn B.T. Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science 309 (2005) 1717-1720
11. Friston K.J., Holmes A., Poline J.B., Price C.J., and Frith C.D. Detecting activations in PET and fMRI: levels of inference and power. NeuroImage 4 (1996) 223-235
12. Good C.D., Johnsrude I.S., Ashburner J., Henson R.N., Friston K.J., and Frackowiak R.S. A voxel-based morphometric study of ageing in 465 normal adult human brains. NeuroImage 14 (2001) 21-36
13. Gordon E. Integrative neuroscience in psychiatry: the role of a standardized database. Australas. Psychiatry 11 (2003) 156-163
14. Gordon E., Cooper N., Rennie C., Hermens D., and Williams L.M. Integrative neuroscience: the role of a standardized database. Clin. EEG Neurosci. 36 (2005) 64-75
15. Grieve S.M., Clark C.R., Williams L.M., Peduto A.J., and Gordon E. Preservation of limbic and paralimbic structures in aging. Hum. Brain Mapp. 25 (2005) 391-401
16. Gur R.C., Mozley P.D., Resnick S.M., Gottlieb G.L., Kohn M., Zimmerman R., Herman G., Atlas S., Grossman R., Berretta D., et al. Gender differences in age effect on brain atrophy measured by magnetic resonance imaging. Proc. Natl. Acad. Sci. U. S. A. 88 (1991) 2845-2849
17. Jackson A.P., Eastwood H., Bell S.M., Adu J., Toomes C., Carr I.M., Roberts E., Hampshire D.J., Crow Y.J., Mighell A.J., Karbani G., Jafri H., Rashid Y., Mueller R.F., Markham A.F., and Woods C.G. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am. J. Hum. Genet. 71 (2002) 136-142
18. Kouprina N., Pavlicek A., Mochida G.H., Solomon G., Gersch W., Yoon Y.H., Collura R., Ruvolo M., Barrett J.C., Woods C.G., Walsh C.A., Jurka J., and Larionov V. Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol. 2 (2004) E126
19. Kouprina N., Pavlicek A., Collins N.K., Nakano M., Noskov V.N., Ohzeki J., Mochida G.H., Risinger J.I., Goldsmith P., Gunsior M., Solomon G., Gersch W., Kim J.H., Barrett J.C., Walsh C.A., Jurka J., Masumoto H., and Larionov V. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum. Mol. Genet. 14 (2005) 2155-2165
20. Lenth, R.V., 2006. Java Applets for Power and Sample Size (Computer software). http://www.stat.uiowa.edu/~rlenth/Power.
21. Lin S.Y., and Elledge S.J. Multiple tumor suppressor pathways negatively regulate telomerase. Cell 113 (2003) 881-889
22. Lin S.Y., Rai R., Li K., Xu Z.X., and Elledge S.J. BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 15105-15109
23. Mekel-Bobrov N., Gilbert S.L., Evans P.D., Vallender E.J., Anderson J.R., Hudson R.R., Tishkoff S.A., and Lahn B.T. Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science 309 (2005) 1720-1722
24. Mekel-Bobrov N., Posthuma D., Gilbert S.L., Lind P., Gosso M.F., Luciano M., Harris S.E., Bates T.C., Polderman T.J., Whalley L.J., Fox H., Starr J.M., Evans P.D., Montgomery G.W., Fernandes C., Heutink P., Martin N.G., Boomsma D.I., Deary I.J., Wright M.J., de Geus E.J., and Lahn B.T. The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence. Hum. Mol. Genet. 16 (2007) 600-608
25. Mochida G.H., and Walsh C.A. Molecular genetics of human microcephaly. Curr. Opin. Neurol. 14 (2001) 151-156
26. Paul R.H., Lawrence J., Williams L.M., Richard C.C., Cooper N., and Gordon E. Preliminary validity of "integneuro(tm)": a new computerized battery of neurocognitive tests. Int. J. Neurosci. 115 (2005) 1549-1567
27. Purcell S., Cherny S.S., and Sham P.C. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19 (2003) 149-150
28. Rai R., Dai H., Multani A.S., Li K., Chin K., Gray J., Lahad J.P., Liang J., Mills G.B., Meric-Bernstam F., and Lin S.Y. BRIT1 regulates early DNA damage response, chromosomal integrity, and cancer. Cancer Cell 10 (2006) 145-157
29. Rushton J.P., Vernon P.A., and Bons T.A. No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism. Biol. Lett. 3 (2007) 157-160
30. Trimborn M., Bell S.M., Felix C., Rashid Y., Jafri H., Griffiths P.D., Neumann L.M., Krebs A., Reis A., Sperling K., Neitzel H., and Jackson A.P. Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am. J. Hum. Genet. 75 (2004) 261-266
31. Tzourio-Mazoyer N., Landeau B., Papathanassiou D., Crivello F., Etard O., Delcroix N., Mazoyer B., and Joliot M. Automated anatomical labeling of activations in SPM using a macroscopic anatomical parcellation of the MNI MRI single-subject brain. NeuroImage 15 (2002) 273-289
32. Wang Y.Q., and Su B. Molecular evolution of microcephalin, a gene determining human brain size. Hum. Mol. Genet. 13 (2004) 1131-1137
33. Whitford T.J., Rennie C.J., Grieve S.M., Clark C.R., Gordon E., and Williams L.M. Brain maturation in adolescence: concurrent changes in neuroanatomy and neurophysiology. Hum. Brain Mapp. 28 (2007) 228-237
34. Witelson S.F., Beresh H., and Kigar D.L. Intelligence and brain size in 100 postmortem brains: sex, lateralization and age factors. Brain 129 (2006) 386-398
35. Woods C.G. Human microcephaly. Curr. Opin. Neurobiol. 14 (2004) 112-117
36. Woods C.G., Bond J., and Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am. J. Hum. Genet. 76 (2005) 717-728
37. Woods R.P., Freimer N.B., De Young J.A., Fears S.C., Sicotte N.L., Service S.K., Valentino D.J., Toga A.W., and Mazziotta J.C. Normal variants of Microcephalin and ASPM do not account for brain size variability. Hum. Mol. Genet. 15 (2006) 2025-2029
38. Wright M., De Geus E., Ando J., Luciano M., Posthuma D., Ono Y., Hansell N., Van Baal C., Hiraishi K., Hasegawa T., Smith G., Geffen G., Geffen L., Kanba S., Miyake A., Martin N., and Boomsma D. Genetics of cognition: outline of a collaborative twin study. Twin Res. 4 (2001) 48-56
39. Xu X., Lee J., and Stern D.F. Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1. J. Biol. Chem. 279 (2004) 34091-34094
40. Yu F., Hill R.S., Schaffner S.F., Sabeti P.C., Wang E.T., Mignault A.A., Ferland R.J., Moyzis R.K., Walsh C.A., and Reich D. Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". Science 316 (2007) 370
41. Zhang J. Evolution of the human ASPM gene, a major determinant of brain size. Genetics 165 (2003) 2063-2070