메뉴 건너뛰기




Volumn 107, Issue 38, 2010, Pages 16595-16600

Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline

(15)  Pulvers, Jeremy N a,e   Bryk, Jarosław b,f   Fish, Jennifer L a,g   Wilsch Bräuninger, Michaela a   Arai, Yoko a   Schreier, Dora a   Naumann, Ronald a   Helppi, Jussi a   Habermann, Bianca a,h   Vogt, Johannes c,i   Nitsch, Robert c,i   Tóth, Attila d   Enard, Wolfgang b   Pääbo, Svante b   Huttner, Wieland B a  


Author keywords

Cerebral cortex; Evolution; Fertility; Germ cells; Neural stem cells

Indexed keywords

ABNORMAL SPINDLE LIKE MICROCEPHALY ASSOCIATED GENE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL CYCLE M PHASE; CELL LOSS; CONTROLLED STUDY; FEMALE; FEMALE INFERTILITY; GENE; GENE MUTATION; GERM LINE; MALE; MALE INFERTILITY; MICROCEPHALY; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SPECIES COMPARISON; SPERMATOZOON COUNT; SPERMATOZOON MOTILITY; TRANSGENE; ANIMAL; BRAIN; C57BL MOUSE; DISEASE MODEL; EMBRYONIC STEM CELL; GENE DELETION; GENETICS; GERMLINE MUTATION; HUMAN; INFERTILITY; METABOLISM; MUTANT MOUSE STRAIN; MUTATION; NERVE CELL; NEWBORN; NUCLEOTIDE SEQUENCE; OLIGOSPERMIA; OVARY; PATHOLOGY; PHYSIOLOGY; TESTIS; TRANSGENIC MOUSE;

EID: 78049310300     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1010494107     Document Type: Article
Times cited : (165)

References (37)
  • 1
    • 70349274112 scopus 로고    scopus 로고
    • Evolution of the neocortex: A perspective from developmental biology
    • Rakic P (2009) Evolution of the neocortex: A perspective from developmental biology. Nat Rev Neurosci 10:724-735.
    • (2009) Nat Rev Neurosci , vol.10 , pp. 724-735
    • Rakic, P.1
  • 2
    • 33750375788 scopus 로고    scopus 로고
    • Patterns of neural stem and progenitor cell division may underlie evolutionary cortical expansion
    • DOI 10.1038/nrn2008, PII NRN2008
    • Kriegstein A, Noctor S, Martínez-Cerdeño V (2006) Patterns of neural stem and progenitor cell division may underlie evolutionary cortical expansion. Nat Rev Neurosci 7:883-890. (Pubitemid 44624180)
    • (2006) Nature Reviews Neuroscience , vol.7 , Issue.11 , pp. 883-890
    • Kriegstein, A.1    Noctor, S.2    Martinez-Cerdeno, V.3
  • 3
    • 53049092469 scopus 로고    scopus 로고
    • Making bigger brains - The evolution of neural-progenitor-cell division
    • Fish JL, Dehay C, Kennedy H, Huttner WB (2008) Making bigger brains - the evolution of neural-progenitor-cell division. J Cell Sci 121:2783-2793.
    • (2008) J Cell Sci , vol.121 , pp. 2783-2793
    • Fish, J.L.1    Dehay, C.2    Kennedy, H.3    Huttner, W.B.4
  • 4
    • 1342285538 scopus 로고    scopus 로고
    • Human microcephaly
    • Woods CG (2004) Human microcephaly. Curr Opin Neurobiol 14:112-117.
    • (2004) Curr Opin Neurobiol , vol.14 , pp. 112-117
    • Woods, C.G.1
  • 5
    • 0036787796 scopus 로고    scopus 로고
    • ASPM is a major determinant of cerebral cortical size
    • Bond J, et al. (2002) ASPM is a major determinant of cerebral cortical size. Nat Genet 32:316-320.
    • (2002) Nat Genet , vol.32 , pp. 316-320
    • Bond, J.1
  • 6
    • 19444379820 scopus 로고    scopus 로고
    • Evolution of primary microcephaly genes and the enlargement of primate brains
    • DOI 10.1016/j.gde.2005.04.009, PII S0959437X05000614
    • Ponting C, Jackson AP (2005) Evolution of primary microcephaly genes and the enlargement of primate brains. Curr Opin Genet Dev 15:241-248. (Pubitemid 40726046)
    • (2005) Current Opinion in Genetics and Development , vol.15 , Issue.3 SPEC. ISS , pp. 241-248
    • Ponting, C.1    Jackson, A.P.2
  • 7
    • 0347992009 scopus 로고    scopus 로고
    • Evolution of the Human ASPM Gene, a Major Determinant of Brain Size
    • Zhang J (2003) Evolution of the human ASPM gene, a major determinant of brain size. Genetics 165:2063-2070. (Pubitemid 38040290)
    • (2003) Genetics , vol.165 , Issue.4 , pp. 2063-2070
    • Zhang, J.1
  • 10
    • 67650594943 scopus 로고    scopus 로고
    • Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family
    • Saadi A, et al. (2009) Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. Eur J Med Genet 52:180-184.
    • (2009) Eur J Med Genet , vol.52 , pp. 180-184
    • Saadi, A.1
  • 12
    • 25444514085 scopus 로고    scopus 로고
    • The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein
    • Kouprina N, et al. (2005) The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet 14:2155-2165.
    • (2005) Hum Mol Genet , vol.14 , pp. 2155-2165
    • Kouprina, N.1
  • 13
    • 34548251039 scopus 로고    scopus 로고
    • ASPM and citron kinase co-localize to the midbody ring during cytokinesis
    • Paramasivam M, Chang YJ, LoTurco JJ (2007) ASPM and citron kinase co-localize to the midbody ring during cytokinesis. Cell Cycle 6:1605-1612. (Pubitemid 47327947)
    • (2007) Cell Cycle , vol.6 , Issue.13 , pp. 1605-1612
    • Paramasivam, M.1    Yoon, J.C.2    LoTurco, J.J.3
  • 14
    • 0242607170 scopus 로고    scopus 로고
    • Protein-truncating mutations in ASPM cause variable reduction in brain size
    • Bond J, et al. (2003) Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet 73:1170-1177.
    • (2003) Am J Hum Genet , vol.73 , pp. 1170-1177
    • Bond, J.1
  • 15
    • 65949089612 scopus 로고    scopus 로고
    • The molecular landscape of ASPM mutations in primary microcephaly
    • Nicholas AK, et al. (2009) The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet 46:249-253.
    • (2009) J Med Genet , vol.46 , pp. 249-253
    • Nicholas, A.K.1
  • 16
    • 70349667037 scopus 로고    scopus 로고
    • Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
    • Passemard S, et al. (2009) Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology 73:962-969.
    • (2009) Neurology , vol.73 , pp. 962-969
    • Passemard, S.1
  • 17
    • 0036805340 scopus 로고    scopus 로고
    • Murine calmodulin binding protein 1 (Calmbp1): Tissue-specific expression during development and in adult tissues
    • DOI 10.1016/S0925-4773(02)00253-8, PII S0925477302002538
    • Lüers GH, Michels M, Schwaab U, Franz T (2002) Murine calmodulin binding protein 1 (Calmbp1): Tissue-specific expression during development and in adult tissues. Mech Dev 118:229-232. (Pubitemid 35292144)
    • (2002) Mechanisms of Development , vol.118 , Issue.1-2 , pp. 229-232
    • Luers, G.H.1    Michels, M.2    Schwaab, U.3    Franz, T.4
  • 18
    • 48749130712 scopus 로고    scopus 로고
    • Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas
    • Hagemann C, et al. (2008) Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. Oncol Rep 20:301-308.
    • (2008) Oncol Rep , vol.20 , pp. 301-308
    • Hagemann, C.1
  • 19
    • 51049115975 scopus 로고    scopus 로고
    • ASPM is a novel marker for vascular invasion, early recurrence, and poor prognosis of hepatocellular carcinoma
    • Lin S-Y, et al. (2008) ASPM is a novel marker for vascular invasion, early recurrence, and poor prognosis of hepatocellular carcinoma. Clin Cancer Res 14:4814-4820.
    • (2008) Clin Cancer Res , vol.14 , pp. 4814-4820
    • Lin, S.-Y.1
  • 20
    • 33751208636 scopus 로고    scopus 로고
    • Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target
    • Horvath S, et al. (2006) Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target. Proc Natl Acad Sci USA 103:17402-17407.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 17402-17407
    • Horvath, S.1
  • 21
    • 0033548590 scopus 로고    scopus 로고
    • Abnormal spindle protein, asp, and the integrity of mitotic centrosomal microtubule organizing centers
    • do Carmo Avides M, Glover DM (1999) Abnormal spindle protein, Asp, and the integrity of mitotic centrosomal microtubule organizing centers. Science 283:1733-1735. (Pubitemid 129502060)
    • (1999) Science , vol.283 , Issue.5408 , pp. 1733-1735
    • Avides, M.D.C.1    Glover, D.M.2
  • 22
    • 2642588005 scopus 로고    scopus 로고
    • A public gene trap resource for mouse functional genomics
    • International Gene Trap Consortium
    • Skarnes WC, et al.; International Gene Trap Consortium (2004) A public gene trap resource for mouse functional genomics. Nat Genet 36:543-544.
    • (2004) Nat Genet , vol.36 , pp. 543-544
    • Skarnes, W.C.1
  • 23
    • 34548550321 scopus 로고    scopus 로고
    • Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly
    • DOI 10.1080/01677060701508594, PII 781913668
    • Gul A, et al. (2007) Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly. J Neurogenet 21:153-163. (Pubitemid 47396402)
    • (2007) Journal of Neurogenetics , vol.21 , Issue.3 , pp. 153-163
    • Gul, A.1    Tariq, M.2    Khan, M.N.3    Hassan, M.J.4    Ali, G.5    Ahmad, W.6
  • 24
    • 33751518458 scopus 로고    scopus 로고
    • The armadillo protein p0071 regulates Rho signalling during cytokinesis
    • Wolf A, et al. (2006) The armadillo protein p0071 regulates Rho signalling during cytokinesis. Nat Cell Biol 8:1432-1440.
    • (2006) Nat Cell Biol , vol.8 , pp. 1432-1440
    • Wolf, A.1
  • 25
    • 0026702156 scopus 로고
    • Genes regulating testis size
    • Chubb C (1992) Genes regulating testis size. Biol Reprod 47:29-36.
    • (1992) Biol Reprod , vol.47 , pp. 29-36
    • Chubb, C.1
  • 26
    • 0034191987 scopus 로고    scopus 로고
    • Expression and intracellular localization of mouse Vasahomologue protein during germ cell development
    • Toyooka Y, et al. (2000) Expression and intracellular localization of mouse Vasahomologue protein during germ cell development. Mech Dev 93:139-149.
    • (2000) Mech Dev , vol.93 , pp. 139-149
    • Toyooka, Y.1
  • 28
    • 0036170004 scopus 로고    scopus 로고
    • Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes
    • Suzumori N, Yan C, Matzuk MM, Rajkovic A (2002) Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes. Mech Dev 111:137-141.
    • (2002) Mech Dev , vol.111 , pp. 137-141
    • Suzumori, N.1    Yan, C.2    Matzuk, M.M.3    Rajkovic, A.4
  • 29
    • 0141682318 scopus 로고    scopus 로고
    • Primordial germ cells in the mouse
    • McLaren A (2003) Primordial germ cells in the mouse. Dev Biol 262:1-15.
    • (2003) Dev Biol , vol.262 , pp. 1-15
    • McLaren, A.1
  • 30
    • 68949141428 scopus 로고    scopus 로고
    • Germ cell specification in mice
    • Saitou M (2009) Germ cell specification in mice. Curr Opin Genet Dev 19:386-395.
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 386-395
    • Saitou, M.1
  • 31
    • 0025122399 scopus 로고
    • Abnormal meiotic spindles cause a cascade of defects during spermatogenesis in asp males of Drosophila
    • Casal J, Gonzalez C, Wandosell F, Avila J, Ripoll P (1990) Abnormal meiotic spindles cause a cascade of defects during spermatogenesis in asp males of Drosophila. Development 108:251-260.
    • (1990) Development , vol.108 , pp. 251-260
    • Casal, J.1    Gonzalez, C.2    Wandosell, F.3    Avila, J.4    Ripoll, P.5
  • 32
    • 3042743879 scopus 로고    scopus 로고
    • The abnormal spindle protein is required for germ cell mitosis and oocyte differentiation during Drosophila oogenesis
    • Riparbelli MG, Massarelli C, Robbins LG, Callaini G (2004) The abnormal spindle protein is required for germ cell mitosis and oocyte differentiation during Drosophila oogenesis. Exp Cell Res 298:96-106.
    • (2004) Exp Cell Res , vol.298 , pp. 96-106
    • Riparbelli, M.G.1    Massarelli, C.2    Robbins, L.G.3    Callaini, G.4
  • 33
    • 61849114654 scopus 로고    scopus 로고
    • NuMA-related LIN-5, ASPM-1, calmodulin and dynein promote meiotic spindle rotation independently of cortical LIN-5/GPR/Galpha
    • van der Voet M, et al. (2009) NuMA-related LIN-5, ASPM-1, calmodulin and dynein promote meiotic spindle rotation independently of cortical LIN-5/GPR/Galpha. Nat Cell Biol 11:269-277.
    • (2009) Nat Cell Biol , vol.11 , pp. 269-277
    • Van Der Voet, M.1
  • 34
    • 19944385908 scopus 로고    scopus 로고
    • Generation of pluripotent stem cells from neonatal mouse testis
    • Kanatsu-Shinohara M, et al. (2004) Generation of pluripotent stem cells from neonatal mouse testis. Cell 119:1001-1012.
    • (2004) Cell , vol.119 , pp. 1001-1012
    • Kanatsu-Shinohara, M.1
  • 35
    • 33646141379 scopus 로고    scopus 로고
    • A novel domain suggests a ciliary function for ASPM, a brain size determining gene
    • Ponting CP (2006) A novel domain suggests a ciliary function for ASPM, a brain size determining gene. Bioinformatics 22:1031-1035.
    • (2006) Bioinformatics , vol.22 , pp. 1031-1035
    • Ponting, C.P.1
  • 36
    • 74949126763 scopus 로고    scopus 로고
    • Proteomics enhances evolutionary and functional analysis of reproductive proteins
    • Findlay GD, Swanson WJ (2010) Proteomics enhances evolutionary and functional analysis of reproductive proteins. Bioessays 32:26-36.
    • (2010) Bioessays , vol.32 , pp. 26-36
    • Findlay, G.D.1    Swanson, W.J.2
  • 37
    • 41549122156 scopus 로고    scopus 로고
    • Pervasive adaptive evolution in primate seminal proteins
    • Clark NL, Swanson WJ (2005) Pervasive adaptive evolution in primate seminal proteins. PLoS Genet 1:e35.
    • (2005) PLoS Genet , vol.1
    • Clark, N.L.1    Swanson, W.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.