Inducing mutations in the mouse genome with the chemical mutagen ethylnitrosourea

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dc.contributor.authorMassironi, Sílvia Maria Gomes
dc.contributor.authorReis, B.l.f.s.
dc.contributor.authorCarneiro, Juliana G.
dc.contributor.authorBarbosa, Luciene B. S.
dc.contributor.authorAriza, Carolina Batista [UNIFESP]
dc.contributor.authorSantos, Gilmara Cristina dos
dc.contributor.authorGuénet, Jean Louis
dc.contributor.authorGodard, Ana Lúcia Brunialti
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Federal de Minas Gerais Instituto de Ciências Biológicas Departamento de Biologia Geral
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionInstitut Pasteur Département de Biologie du Développement
dc.date.accessioned2015-06-14T13:36:25Z
dc.date.available2015-06-14T13:36:25Z
dc.date.issued2006-09-01
dc.description.abstractWhen compared to other model organisms whose genome is sequenced, the number of mutations identified in the mouse appears extremely reduced and this situation seriously hampers our understanding of mammalian gene function(s). Another important consequence of this shortage is that a majority of human genetic diseases still await an animal model. To improve the situation, two strategies are currently used: the first makes use of embryonic stem cells, in which one can induce knockout mutations almost at will; the second consists of a genome-wide random chemical mutagenesis, followed by screening for mutant phenotypes and subsequent identification of the genetic alteration(s). Several projects are now in progress making use of one or the other of these strategies. Here, we report an original effort where we mutagenized BALB/c males, with the mutagen ethylnitrosourea. Offspring of these males were screened for dominant mutations and a three-generation breeding protocol was set to recover recessive mutations. Eleven mutations were identified (one dominant and ten recessives). Three of these mutations are new alleles (Otop1mlh, Foxn1sepe and probably rodador) at loci where mutations have already been reported, while 4 are new and original alleles (carc, eqlb, frqz, and Sacc). This result indicates that the mouse genome, as expected, is far from being saturated with mutations. More mutations would certainly be discovered using more sophisticated phenotyping protocols. Seven of the 11 new mutant alleles induced in our experiment have been localized on the genetic map as a first step towards positional cloning.en
dc.description.affiliationUniversidade de São Paulo Instituto de Ciências Biomédicas Departamento de Imunologia
dc.description.affiliationUniversidade Federal de Minas Gerais Instituto de Ciências Biológicas Departamento de Biologia Geral
dc.description.affiliationUniversidade Federal de São Paulo (UNIFESP) Departamento de Bioquímica Disciplina de Biologia Molecular
dc.description.affiliationInstitut Pasteur Département de Biologie du Développement
dc.description.affiliationUnifespUNIFESP, Depto. de Bioquímica Disciplina de Biologia Molecular
dc.description.sourceSciELO
dc.format.extent1217-1226
dc.identifierhttp://dx.doi.org/10.1590/S0100-879X2006000900009
dc.identifier.citationBrazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 39, n. 9, p. 1217-1226, 2006.
dc.identifier.doi10.1590/S0100-879X2006000900009
dc.identifier.fileS0100-879X2006000900009.pdf
dc.identifier.issn0100-879X
dc.identifier.scieloS0100-879X2006000900009
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/3242
dc.identifier.wosWOS:000240545900009
dc.language.isoeng
dc.publisherAssociação Brasileira de Divulgação Científica
dc.relation.ispartofBrazilian Journal of Medical and Biological Research
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectMouseen
dc.subjectEthylnitrosoureaen
dc.subjectMutationen
dc.subjectCo-isogenic mutationsen
dc.subjectMutagenesisen
dc.titleInducing mutations in the mouse genome with the chemical mutagen ethylnitrosoureaen
dc.typeinfo:eu-repo/semantics/article
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