Two missense mutations in the primary autosomal recessive microcephaly gene MCPH1 disrupt the function of the highly conserved n-terminal BRCT domain of microcephalin

Molecular Syndromology

Volumn 3, Issue 1, 2012, Pages 6-13

  Ghani Kakhki, M ^a   Robinson, P N ^a   Morlot, S ^b   Mitter, D ^c   Trimborn, M ^a   Albrecht, B ^c   Varon, R ^a   Sperling, K ^a   Neitzel, H ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MVZ Wagnerstibbe Für Laboratoriumsmedizin Und Pathologie GmbH   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

BRCA1; BRCT domains; MCPH1; Microcephaly; Premature chromosome condensation

Indexed keywords

AMINO ACID; BRCA1 PROTEIN; MICROCEPHALIN 1; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL PROLIFERATION; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME CONDENSATION; DISEASE SEVERITY; DROSOPHILA; FEMALE; GENE DISRUPTION; GENE IDENTIFICATION; GENETIC CODE; GENETIC CONSERVATION; HUMAN; LYMPHOCYTE; MALE; MICROCEPHALY; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STABILITY; RARE DISEASE;

EID: 84862498488     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000338975     Document Type: Article

References (38)

1. Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, et al: Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet 41: 492-507 (2004).
2. Beitz E: TEXshade: shading and labeling of multiple sequence alignments using LATEX2 epsilon. Bioinformatics 16: 135-139 (2000).
3. Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, et al: ASPM is a major determinant of cerebral cortical size. Nat Genet 32: 316-320 (2002).
4. Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, et al: A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 37: 353-355 (2005).
5. Bork P, Hofmann K, Bucher P, Neuwald AF, Altschul SF, Koonin EV: A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins. FASEB J 11: 68-76 (1997).
6. Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, et al: A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet 47: 823-828 (2010).
7. Farooq M, Baig S, Tommerup N, Kjaer KW: Craniosynostosis- microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1. Am J Med Genet A 152A:495-497 (2010).
8. Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, et al: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 118: 708-715 (2006).
9. Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, et al: Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet 87: 40-51 (2010).
10. Huyton T, Bates PA, Zhang X, Sternberg MJ, Freemont PS: The BRCA1 C-terminal domain: structure and function. Mutat Res 460: 319-332 (2000).
11. Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, et al: Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 63: 541-546 (1998).
12. Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, et al: Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 71: 136-142 (2002).
13. Jamieson CR, Govaerts C, Abramowicz MJ: Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 65: 1465-1469 (1999).
14. Jamieson CR, Fryns JP, Jacobs J, Matthijs G, Abramowicz MJ: Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet 67: 1575-1577 (2000).
15. Karchin R, Monteiro AN, Tavtigian SV, Carvalho MA, Sali A: Functional impact of missense variants in BRCA1 predicted by supervised learning. PLoS Comput Biol 3:e26 (2007).
16. Kumar A, Girimaji SC, Duvvari MR, Blanton SH: Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet 84: 286-290 (2009).
17. Leal GF, Roberts E, Silva EO, Costa SM, Hampshire DJ, Woods CG: A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet 40: 540-542 (2003).
18. Leung JW, Leitch A, Wood JL, Shaw-Smith C, Metcalfe K, et al: SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation. J Biol Chem 286: 21393-21400 (2011).
19. Montagna M, Santacatterina M, Corneo B, Menin C, Serova O, et al: Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families. Cancer Res 56: 5466-5469 (1996).
20. Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, et al: A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 66: 724-727 (2000).
21. Neitzel H, Neumann LM, Schindler D, Wirges A, Tönnies H, et al: Premature chromosome condensation in humans associated with microcephaly and mental retardation: A novel autosomal recessive condition. Am J Hum Genet 70: 1015-1022 (2002).
22. Ng PC, Henikoff S: SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31: 3812-3814 (2003).
23. Nicholas AK, Khurshid M, Desir J, Carvalho OP, Cox JJ, et al: WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet 42: 1010-1014 (2010).
24. Ono T, Fang Y, Spector DL, Hirano T: Spatial and temporal regulation of condensins I and II in mitotic chromosome assembly in human cells. Mol Biol Cell 15: 3296-3308 (2004).
25. Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, et al: A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 67: 1578-1580 (2000).
26. Phelan CM, Dapic V, Tice B, Favis R, Kwan E, et al: Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet 42: 138-146 (2005).
27. Quaresima B, Faniello MC, Baudi F, Crugliano T, Di Sanzo M, et al: Missense mutations of BRCA1 gene affect the binding with p53 both in vitro and in vivo. Oncol Rep 16: 811-815 (2006).
28. Ramensky V, Bork P, Sunyaev S: Human nonsynonymous SNPs: server and survey. Nucleic Acids Res 30: 3894-3900 (2002).
29. Roberts E, Jackson AP, Carradice AC, Deeble VJ, Mannan J, et al: The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet 7: 815-820 (1999).
30. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D: MutationTaster evaluates diseasecausing potential of sequence alterations. Nat Methods 7: 575-576 (2010).
31. Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, et al: Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet 75: 261-266 (2004).
32. Trimborn M, Richter R, Sternberg N, Gavvovidis I, Schindler D, et al: The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum Mutat 26: 496 (2005).
33. Trimborn M, Schindler D, Neitzel H, Hirano T: Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. Cell Cycle 5: 322-326 (2006).
34. Williams RS, Chasman DI, Hau DD, Hui B, Lau AY, Glover JN: Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J Biol Chem 278: 53007-53016 (2003).
35. Wood JL, Liang Y, Li K, Chen J: Microcephalin/ MCPH1 associates with the condensin II complex to function in homologous recombination repair. J Biol Chem 283: 29586-29592 (2008).
36. Woods CG, Bond J, Enard W: Autosomal recessive primary microcephaly (MCPH): A review of clinical, molecular, and evolutionary findings. Am J Hum Genet 76: 717-728 (2005).
37. Zhong X, Liu L, Zhao A, Pfeifer GP, Xu X: The abnormal spindle-like, microcephaly-associated (ASPM) gene encodes a centrosomal protein. Cell Cycle 4: 1227-1229 (2005).
38. Zhong X, Pfeifer GP, Xu X: Microcephalin encodes a centrosomal protein. Cell Cycle 5: 457-458 (2006).