Role of BRCA1 in brain development

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 13, 2014, Pages

  Pao, Gerald M ^a   Zhu, Quan ^a   Perez Garcia, Carlos G ^a   Chou, Shen Ju ^a,b   Suh, Hoonkyo ^a,c   Gage, Fred H ^a   O'Leary, Dennis D M ^a   Verma, Inder M ^a  

^a SALK INSTITUTE FOR BIOLOGICAL STUDIES   (United States)

^b INSTITUTE OF CELLULAR AND ORGANISMIC BIOLOGY   (Taiwan)

^c LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; CASPASE 3; MESSENGER RNA; PROTEIN P53; REELIN; TRANSCRIPTION FACTOR DLX5; TRANSCRIPTION FACTOR SOX2;

AGENESIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; AUTOPHOSPHORYLATION; BRAIN DEVELOPMENT; BRAIN MALFORMATION; BRAIN SIZE; CELL DEATH; CELL POLARITY; CELL PROLIFERATION; CEREBELLUM; COGNITION; CONTROLLED STUDY; DENTATE GYRUS; DNA DAMAGE; DOUBLE STRANDED DNA BREAK; GENE DELETION; GENE EXPRESSION; GRANULAR CELL; HIPPOCAMPUS; MOTOR PERFORMANCE; MOUSE; NEOCORTEX; NERVE CELL DIFFERENTIATION; NEURAL STEM CELL; NONHUMAN; OLFACTORY BULB; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION;

ANIMALS; APOPTOSIS; ATAXIA TELANGIECTASIA MUTATED PROTEINS; BRAIN; BRCA1 PROTEIN; CELL POLARITY; CELL PROLIFERATION; CELL SURVIVAL; COGNITION; GENE DELETION; LEARNING; MICE; MICE, KNOCKOUT; MOTOR ACTIVITY; NESTIN; NEURAL STEM CELLS; PHENOTYPE; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84897519534     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1400783111     Document Type: Article

References (41)

1. Monje ML, Mizumatsu S, Fike JR, Palmer TD (2002) Irradiation induces neural precursor- cell dysfunction. Nat Med 8(9):955-962.
2. Yamazaki JN, Schull WJ (1990) Perinatal loss and neurological abnormalities among children of the atomic bomb. Nagasaki and Hiroshima revisited, 1949 to 1989. JAMA 264(5):605-609.
3. Li H, et al. (2008) A role for endogenous and radiation-induced DNA double-strand breaks in p53-dependent apoptosis during cortical neurogenesis. Radiat Res 169(5): 513-522.
4. Tanori M, et al. (2013) Developmental and oncogenic radiation effects on neural stem cells and their differentiating progeny in mouse cerebellum. Stem Cells 31(11): 2506-2516.
5. Okamoto M, et al. (2009) Effect of radiation on the development of immature hippocampal neurons in vitro. Radiat Res 172(6):718-724.
6. Cao L, et al. (2006) ATM-Chk2-p53 activation prevents tumorigenesis at an expense of organ homeostasis upon Brca1 deficiency. EMBO J 25(10):2167-2177.
7. Miki Y, et al. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266(5182):66-71.
8. Lane TF, et al. (1995) Expression of Brca1 is associated with terminal differentiation of ectodermally and mesodermally derived tissues in mice. Genes Dev 9(21):2712-2722.
9. Korhonen L, Brännvall K, Skoglösa Y, Lindholm D (2003) Tumor suppressor gene BRCA-1 is expressed by embryonic and adult neural stem cells and involved in cell proliferation. J Neurosci Res 71(6):769-776.
10. Hsu LC, White RL (1998) BRCA1 is associated with the centrosome during mitosis. Proc Natl Acad Sci USA 95(22):12983-12988.
11. Xu X, et al. (1999) Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells. Mol Cell 3(3): 389-395.
12. Pulvers JN, Huttner WB (2009) Brca1 is required for embryonic development of the mouse cerebral cortex to normal size by preventing apoptosis of early neural progenitors. Development 136(11):1859-1868.
13. Zhu Q, et al. (2011) BRCA1 tumour suppression occurs via heterochromatin-mediated silencing. Nature 477(7363):179-184.
14. Shen SX, et al. (1998) A targeted disruption of the murine Brca1 gene causes gammairradiation hypersensitivity and genetic instability. Oncogene 17(24):3115-3124.
15. Tronche F, et al. (1999) Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety. Nat Genet 23(1):99-103.
16. Chou SJ, Perez-Garcia CG, Kroll TT, O'Leary DD (2009) Lhx2 specifies regional fate in Emx1 lineage of telencephalic progenitors generating cerebral cortex. Nat Neurosci 12(11):1381-1389.
17. Angevine JB, Jr., Sidman RL (1961) Autoradiographic study of cell migration during histogenesis of cerebral cortex in the mouse. Nature 192:766-768.
18. Rakic P (1972) Mode of cell migration to the superficial layers of fetal monkey neocortex. J Comp Neurol 145(1):61-83.
19. Caviness VS, Jr., Takahashi T (1995) Proliferative events in the cerebral ventricular zone. Brain Dev 17(3):159-163.
20. Lambert de Rouvroit C, Goffinet AM (1998) The reeler mouse as a model of brain development. Adv Anat Embryol Cell Biol 150:1-106.
21. Perez-Garcia CG, Tissir F, Goffinet AM, Meyer G (2004) Reelin receptors in developing laminated brain structures of mouse and human. Eur J Neurosci 20(10):2827-2832.
22. Meyer G, Perez-Garcia CG, Abraham H, Caput D (2002) Expression of p73 and Reelin in the developing human cortex. J Neurosci 22(12):4973-4986.
23. Bellamy TC (2006) Interactions between Purkinje neurones and Bergmann glia. Cerebellum 5(2):116-126.
24. Hibi M, Shimizu T (2012) Development of the cerebellum and cerebellar neural circuits. Dev Neurobiol 72(3):282-301.
25. Hakem R, de la Pompa JL, Elia A, Potter J, Mak TW (1997) Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation. Nat Genet 16(3):298-302.
26. Xu X, Aprelikova O, Moens P, Deng CX, Furth PA (2003) Impaired meiotic DNAdamage repair and lack of crossing-over during spermatogenesis in BRCA1 full-length isoform deficient mice. Development 130(9):2001-2012.
27. Yang C, et al. (2011) Aurora-B mediated ATM serine 1403 phosphorylation is required for mitotic ATM activation and the spindle checkpoint. Mol Cell 44(4):597-608.
28. Frappart PO, et al. (2005) An essential function for NBS1 in the prevention of ataxia and cerebellar defects. Nat Med 11(5):538-544.
29. Bérubé NG, et al. (2005) The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. J Clin Invest 115(2):258-267.
30. Thornton GK, Woods CG (2009) Primary microcephaly: Do all roads lead to Rome? Trends Genet 25(11):501-510.
31. Scully R, et al. (1999) Genetic analysis of BRCA1 function in a defined tumor cell line. Mol Cell 4(6):1093-1099.
32. Parvin JD (2009) The BRCA1-dependent ubiquitin ligase, gamma-tubulin, and centrosomes. Environ Mol Mutagen 50(8):649-653.
33. Gowen LC, Johnson BL, Latour AM, Sulik KK, Koller BH (1996) Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities. Nat Genet 12(2):191-194.
34. 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(33):34091-34094.
35. Lin SY, Rai R, Li K, Xu ZX, Elledge SJ (2005) BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. Proc Natl Acad Sci USA 102(42):15105-15109.
36. Mekel-Bobrov N, et al. (2005) Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science 309(5741):1720-1722.
37. Evans PD, et al. (2005) Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science 309(5741):1717-1720.
38. Zhang G, et al. (2013) Comparative analysis of bat genomes provides insight into the evolution of flight and immunity. Science 339(6118):456-460.
39. Salser W, et al. (1976) Investigation of the organization of mammalian chromosomes at the DNA sequence level. Fed Proc 35(1):23-35.
40. Eccles D, Bunyan D, Barker S, Castle B (2005) BRCA1 mutation and neuronal migration defect: Implications for chemoprevention. J Med Genet 42(7):e42.
41. Eccles DM, Barker S, Pilz DT, Kennedy C (2003) Neuronal migration defect in a BRCA1 gene carrier: Possible focal nullisomy? J Med Genet 40(3):e24.