Autosomal recessive primary microcephaly (MCPH): A review of clinical, molecular, and evolutionary findings

American Journal of Human Genetics

Volumn 76, Issue 5, 2005, Pages 717-728

  Woods, C Geoffrey ^a,d   Bond, Jacquelyn ^b   Enard, Wolfgang ^c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c MAX PLANCK INSTITUTE FOR EVOLUTIONARY ANTHROPOLOGY   (Germany)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ABNORMAL SPINDLE LIKE MICROCEPHALY ASSOCIATED PROTEIN; CENTROMERE ASSOCIATED PROTEIN J; CYCLIN DEPENDENT KINASE 5 REGULATORY ASSOCIATED PROTEIN 2; DNA; MICROCEPHALIN; PROTEIN; UNCLASSIFIED DRUG;

APE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY; BRAIN; BRAIN CORTEX; BRAIN SIZE; CELL CYCLE; CENTROSOME; CLINICAL FEATURE; COGNITION; DEVELOPMENTAL DISORDER; DNA REPAIR; EPITHELIUM; ETHNOLOGY; FAMILY; GENE; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SELECTION; HEAD CIRCUMFERENCE; HUMAN; INCIDENCE; MENTAL DEFICIENCY; MICROCEPHALY; MITOSIS; MOLECULAR EVOLUTION; MOLECULAR GENETICS; NERVE CELL DIFFERENTIATION; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVIEW; SEQUENCE ANALYSIS; SPINDLE POLE BODY;

ALOCASIA MACRORRHIZOS;

EID: 17644399484     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/429930     Document Type: Review

References (101)

1. Aicardi J (1998) Malformations of the central nervous system. In: Aicardi J (ed) Diseases of the nervous system in childhood, 3rd ed. McKeith Press, London, pp 90-91
2. Albertson R, Doe CQ (2003) Dlg, Scrib and Lgl regulate neuroblast cell size and mitotic spindle asymmetry. Nat Cell Biol 5:166-170
3. Armstrong E (1985) Relative brain size in monkeys and prosimians. Am J Phys Anthropol 66:263-273
4. Avides MC, Glover DM (1999) Abnormal spindle protein, Asp, and the integrity of mitotic centrosomal microtubule organizing centres. Science 283:1733-1735
5. Avides MC, Tavares A, Glover DM (2001) Polo kinase and Asp are needed to promote the mitotic organizing activity of centrosomes. Nat Cell Biol 3:421-424
6. Babson SG, Benda GI (1976) Growth graphs for the clinical assessment of infants of varying gestational age. J Pediatr 89:814-820
7. Baraitser M (1990) Microcephaly. In: The genetics of neurological disorders, Vol. 18, 2nd ed. Oxford Medical Publications, Oxford, pp 26-33
8. Barkovich AJ, Kuzniecky RI, Dobyns WB (2001) Radiologic classification of malformations of cortical development. Curr Opin Neurol 14:145-149
9. Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG (2002) ASPM is a major determinant of cerebral cortical size. Nat Genet 32:316-320
10. Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida G, Hennekam RCM, Maher ER, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh C, Roberts E, Woods CG (2003) Protein truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet 73: 1170-1177
11. Böök JA, Schut JW, Reed SC (1953) A clinical and genetical study of microcephaly. Am J Ment Defic 57:637-660
12. Brand S, Rakic P (1979) Genesis of the primate neostriatum: [3H]thymidine autoradiographic analysis of the time of neuron origin in the rhesus monkey. Neuroscience 4:767-778
13. Brown P, Sutikna T, Morwood MJ, Soejono RP, Jatmiko, Saptomo EW, Due RA (2004) A new small-bodied hominin from the Late Pleistocene of Flores, Indonesia. Nature 431:1055-1061
14. Bundey S (1997) Abnormal mental development. In: Rimoin DL, Connor JM, Pyeritz RE (eds) Emery and Rimoin's principles and practice of medical genetics, 3rd ed. Churchill Livingstone. New York, p 730
15. Bundey S, Alam H (1993) A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding. Eur J Hum Genet 1: 206-219
16. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285-298
17. Chenn A, Walsh CA (2002) Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science 297:365-369
18. _ (2003) Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in β-catenin overexpressing transgenic mice. Cereb Cortex 13:599-606
19. Clark DA, Mitra PP, Wang SS (2001) Scalable architecture in mammalian brains. Nature 411:189-193
20. Cowie V (1960) The genetics and sub-classification of microcephaly. J Ment Defic Res 4:42-47
21. Craig R, Norbury C (1998) The novel murine calmodulin-binding protein Sha1 disrupts mitotic spindle and replication checkpoint functions in fission yeast. J Cell Sci 111:3609-3619
22. Dobyns WB (2002) Primary microcephaly: new approaches for an old disorder. Am J Med Genet 112:315-317
23. Doe CQ, Bowerman B (2001) Asymmetric cell division: fly neuroblast meets worm zygote. Curr Opin Cell Biol 13:68-75
24. Dolk H (1991) The predictive value of microcephaly during the first year of life for mental retardation at seven years. Dev Med Child Neurol 33:974-983
25. Dorus S, Vallender EJ, Evans PD, Anderson JR, Gilbert SL, Mahowald M, Wyckoff GJ, Malcom CM Lahn BT (2004) Accelerated evolution of nervous system genes in the origin of Homo sapiens. Cell 119:1027-1040
26. Evans PD, Anderson JR, Vallender EJ, Choi SS, Lahn BT (2004a) Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. Hum Mol Genet 13:1139-1145
27. Evans PD, Anderson JR, Vallender EJ, Gilbert SL, Malcom CM, Dorus S, Lahn BT (2004b) Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans. Hum Mol Genet 13:489-494
28. Fay JC, Wu CI (2003) Sequence divergence, functional constraint, and selection in protein evolution. Annu Rev Genomics Hum Genet 4:213-235
29. Freire-Maia N (1990) Consanguinity marriages in Brazil. Rev Bras Biol 50:863-866
30. Gonzalez C, Saunders RD, Casal J, Molina I, Carmena M, Ripoll P, Glover DM (1990) Mutations at the asp locus of Drosophila lead to multiple free centrosomes in syncytial embryos, but restrict centrosome duplication in larval neuroblasts. J Cell Sci 96:605-616
31. Goodman M (1999) The genomic record of humankind's evolutionary roots. Am J Hum Genet 64:31-39
32. Gross SJ, Oehler JM, Eckerman CO (1983) Head growth and developmental outcome in very low birth weight infants. Pediatrics 71:70-75
33. Harvey PH, Krebs JR (1990) Comparing brains. Science 249:140-146
34. Haydar TF, Ang E Jr, Rakic P (2003) Mitotic spindle rotation and mode of cell division in the developing telencephalon. Proc Natl Acad Sci USA 100:2890-2895
35. Hung LY, Chen H-L, Dhang C-W, Li B-R, Tang TK (2004) Identification of a novel microtubule-destabilizing motif in CPAP that binds to tubulin heterodimers and inhibits microtubule assembly. Mol Biol Cell 15:2697-2706
36. Hung LY, Tang CJ, Tang TK (2000) Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the γ-tubulin complex. Mol Cell Biol 20:7813-7825
37. Hurst LD (2002) The Ka/Ks ratio: diagnosing the form of sequence evolution. Trends Genet 18:486-487
38. Huyton T, Bates PA, Zhang X, Sternberg MJ, Freemont PS (2000) The BRCA1 C-terminal domain: structure and function. Mutat Res 460:319-332
39. Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG (2002) Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 71:136-142
40. Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG (1998) Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 63:541-546
41. Jamieson CR, Fryns JP, Jacobs J, Matthijs G, Abramowicz MJ (2000) Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet 67:1575-1577
42. Jamieson CR, Govaerts C, Abramowicz MJ (1999) Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 65:1465-1469
43. Jerison HJ (1973) Evolution of the brain and intelligence. Academic Press, New York
44. Kloepfer HW, Platou RV, Hansche WJ (1964) Manifestations of a recessive gene for microcephaly in a population isolate. J Genet Hum 13:52-59
45. Komai T, Kishimoto K, Ozaki Y (1955) Genetic study of microcephaly based on Japanese material. Am J Hum Genet 47:51-65
46. Kornack DR, Rakic P (1998) Changes in cell-cycle kinetics during the development and evolution of primate neocortex. Proc Natl Acad Sci USA 95:1242-1246
47. Kouprina N, Pavlicek A, Mochida GH, Solomon G, Gersch W, Yoon YH, Collura R, Ruvolo M, Barrett JC, Woods CG, Walsh CA, Jurka J, Larionov V (2004) Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol 2:E126
48. Kumar A, Blanton SH, Babu M, Markandaya M, Girimaji SC (2004) Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. Clin Genet 66:341-348
49. Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
50. Leal GF, Roberts E, Silva EO, Costa SMR, Hampshire DJ, Woods CG (2003) A Brazilian locus for autosomal recessive primary microcephaly maps to 13q12.2. J Med Genet 40:540-542
51. Li K, Kaufman TC (1996) The homeotic target gene centrosomin encodes an essential centrosomal component. Cell 88: 585-596
52. Marino L (1998) A comparison of encephalization between odontocete cetaceans and anthropoid primates. Brain Behav Evol 51:230-238
53. McDonald JH, Kreitman M (1991) Adaptive protein evolution at the Adh locus in Drosophila. Nature 351:652-654
54. McHenry HM (1994) Tempo and mode in human evolution. Proc Natl Acad Sci USA 91:6780-6786
55. Megraw TL, Li K, Kao L-R, Kaufman TC (1999) The Centrosomin protein is required for centrosome assembly and function during cleavage in Drosophila. Development 126: 2829-2839
56. Mochida GH, Walsh CA (2001) Molecular genetics of human microcephaly. Curr Opin Neurol 14:151-156
57. Morwood MJ, Soejono RP, Roberts RG, Sutikna T, Turney CS, Westaway KE, Rink WJ, Zhao JX, van den Bergh GD, Due RA, Hobbs DR, Moore MW, Bird MI, Fifield LK (2004) Archaeology and age of a new hominin from Flores in eastern Indonesia. Nature 431:1087-1091
58. 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
59. Mueller RF, Bishop DT (1993) Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. J Med Genet 30:798-799
60. Neitzel H, Neumann LM, Schindler D, Wirges A, Tonnies H, Trimborn M, Krebsova A, Richter R, Sperling K (2002) Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. Am J Hum Genet 70:1015-1022
61. Nellhaus G (1968) Head circumference from birth to eighteen years: practical composite of international abd interracial graphs. Pediatrics 41:106-114
62. Opitz JM, Holt MC (1992) Microcephaly: general considerations and aids to nosology. J Craniofac Genet Dev Bio 10: 175-204
63. Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG (2000) A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 67:1578-1580
64. Pichon B, Vankerckhove S, Bourrouillou G, Duprez L, Abramowicz MJ (2004) A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. Eur J Hum Genet 12:419-421
65. Preuss TM (2004) What is it like to be a human? In: Gazzaniga MS (ed) The cognitive neurosciences III. MIT Press, Cambridge, MA
66. Przeworski M (2002) The signature of positive selection at randomly chosen loci. Genetics 160:1179-1189
67. Qazi QH, Reed TE (1973) A problem in diagnosis of primary versus secondary microcephaly. Clin Genet 4:46-52
68. _ (1975) A possible major contribution to mental retardation in the general population by the gene for microcephaly. Clin Genet 7:85-90
69. Rakic P (1988) Specification of cerebral cortical areas. Science 241:170-176
70. _ (1995) A small step for the cell, a giant leap for mankind: a hypothesis of neocortical expansion during evolution. Trends Neurosci 18:383-388
71. Riparbelli MG, Callaini G, Glover DM, Avides MdoC (2001) A requirement for the abnormal spindle protein to organise microtubules of the central spindle for cytokinesis in Drosophila. J Cell Sci 115:913-922
72. Ripoll P, Pimpinelli S, Valdivia MM, Avila J (1985) A cell division mutant of Drosophila with a functionally abnormal spindle. Cell 41:907-912
73. Roberts E, Bond J, Springell K, Lizarraga S, Scott S, Higgins J, Hampshire DJ, Morrison E, Leal GF, Silva EO, Costa SM, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG (2005) A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 37: 353-355
74. Roberts E, Hampshire DJ, Springell K, Pattison L, Y Crow, Jafri H, Corry P, Kabani G, Mannon J, Rashid Y, Keen J, Bond J, Woods CG (2002) Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet 39:718-721
75. Roberts E, Jackson AP, Carradice AC, Deeble VJ, Mannan J, Rashid Y, Jafri H, McHale DP, Markham AF, Lench NJ, Woods CG (1999) The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet 7:815-820
76. Roche AF, Mukherjee D, Guo S, Moore WM (1987) Head circumference reference data: birth to 18 years. Pediatrics 79:706-712
77. Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schaffer AA, Biesecker LG (2002) Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet 32:175-179
78. Ross JJ, Frias JL (1977) Microcephaly. In: Vinken PJ, Bruyn GW (eds) Congenital malformations of the brain and skull, part 1, vol 30. Elsevier Holland Biomedical Press, Amsterdam, pp 507-524
79. Saunders RD, Avides MC, Howard T, Gonzalez C, Glover DM (1997) The Drosophila gene abnormal spindle encodes a novel microtubule-associated protein that associates with the polar regions of the mitotic spindle. J Cell Biol 137:881-890
80. Sells CJ (1977) Microcephaly in a normal school population. Pediatrics 59:262-265
81. Shen J, Eyaid W, Mochida GH, Bodell A, Woods CG, Walsh CA (2005) ASPM mutations identified in microcephaly with seizures patients. J Med Genet (in press)
82. Sher PK, Brown SB (1975) A longitudinal study of head growth in preterm infants. I. Normal rates of head growth. Dev Med Child Neurol 17:705-710
83. Stephan H, Baron G, Frahm HD (1988) Comparative size of brain and brain components. Comp Primate Biol 4:1-38
84. Stephan H, Frahm HD, Baron G (1981) New and revised data on volume of brain structures in insectivores and primates. Folia Primatol 35:1-29
85. Sujatha M, Kumari CK, Murty JS (1989) Segregation frequency in microcephaly. Hum Genet 81:388-390
86. Teebi AS, Al-Awadi SA, White AG (1987) Autosomal recessive nonsyndromal microcephaly with normal intelligence. Am J Med Genet 26:355-359
87. Terada Y, Uetake Y, Kuriyama R (2003) Interaction of Aurora-A and centrosomin at the microtubule-nucleating site in Drosophila and mammalian cells. J Cell Biol 162:757-763
88. Tolmie JL, McNay M, Stephenson JBP (1987) Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. Am J Med Genet 27:583-594
89. Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP (2004) Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet 75:261-266
90. Tuncbilek E (2001) Clinical outcomes of consanguineous marriages in Turkey. Turk J Pediatr 43:277-279
91. Van den Bosch J (1959) Microcephaly in the Netherlands: a clinical and genetical study. Ann Hum Genet 23:91-116
92. Wakefield JG, Bonaccorsi S, Gatti M (2001) The Drosophila protein asp is involved in microtubule organization during spindle formation and cytokinesis. J Cell Biol 153:637-648
93. Wallerman O, Van Eeghen A, Ten Kate LP, Wadelius C (2003) Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1. Hereditas 139:64-67
94. Wang YQ, Su B (2004) Molecular evolution of microcephalin, a gene determining human brain size. Hum Mol Genet 13: 1131-1137
95. Warkany J (1981) Microcephaly. In: Warkany J, Lemire RJ, Cohen MM (eds) Mental retardation and congenital malformations of the central nervous system. Year Book Medical, Chicago and London, pp 13-40
96. Winter R, Baraitser M (1998) WBDB: The Winter-Baraitser Dysmorphology Database, version 1. London Medical Databases Ltd, London
97. Woods CG (2004) Human microcephaly. Curr Opin Neurobiol 14:112-117
98. Xu X, Lee J, Stern DF (2004) Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1. J Biol Chem 279:34091-34094
99. Yamashita YM, Jones DL, Fuller MT (2003) Orientation of asymmetric stem cell division by the APC tumor suppressor and centrosome. Science 301:1547-1550
100. Yang Z, Bielawski JP (2000) Statistical methods for detecting molecular adaptation. Trends Ecol Evol 15:496-503
101. Zhang J (2003) Evolution of the human ASPM gene, a major determinant of brain size. Genetics 165:2063-2070