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1.
Cell ; 186(6): 1212-1229.e21, 2023 03 16.
Artigo em Inglês | MEDLINE | ID: mdl-36827974

RESUMO

Mitochondrial activity differs markedly between organs, but it is not known how and when this arises. Here we show that cell lineage-specific expression profiles involving essential mitochondrial genes emerge at an early stage in mouse development, including tissue-specific isoforms present before organ formation. However, the nuclear transcriptional signatures were not independent of organelle function. Genetically disrupting intra-mitochondrial protein synthesis with two different mtDNA mutations induced cell lineage-specific compensatory responses, including molecular pathways not previously implicated in organellar maintenance. We saw downregulation of genes whose expression is known to exacerbate the effects of exogenous mitochondrial toxins, indicating a transcriptional adaptation to mitochondrial dysfunction during embryonic development. The compensatory pathways were both tissue and mutation specific and under the control of transcription factors which promote organelle resilience. These are likely to contribute to the tissue specificity which characterizes human mitochondrial diseases and are potential targets for organ-directed treatments.


Assuntos
Mitocôndrias , Organogênese , Animais , Feminino , Humanos , Camundongos , Gravidez , Linhagem da Célula , DNA Mitocondrial/genética , Mitocôndrias/metabolismo , Doenças Mitocondriais , Especificidade de Órgãos , Desenvolvimento Embrionário , Embrião de Mamíferos/citologia , Embrião de Mamíferos/metabolismo
2.
Theor Appl Genet ; 126(5): 1357-66, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23417074

RESUMO

Wide adoption of direct-seeded rice practices has been hindered by poorly leveled fields, heavy rainfall and poor drainage, which cause accumulation of water in the fields shortly after sowing, leading to poor crop establishment. This is due to the inability of most rice varieties to germinate and reach the water surface under complete submergence. Hence, tolerance of anaerobic conditions during germination is an essential trait for direct-seeded rice cultivation in both rainfed and irrigated ecosystems. A QTL study was conducted to unravel the genetic basis of tolerance of anaerobic conditions during germination using a population derived from a cross between IR42, a susceptible variety, and Ma-Zhan Red, a tolerant landrace from China. Phenotypic data was collected based on the survival rates of the seedlings at 21 days after sowing of dry seeds under 10 cm of water. QTL analysis of the mapping population consisting of 175 F2:3 families genotyped with 118 SSR markers identified six significant QTLs on chromosomes 2, 5, 6, and 7, and in all cases the tolerant alleles were contributed by Ma-Zhan Red. The largest QTL on chromosome 7, having a LOD score of 14.5 and an R (2) of 31.7 %, was confirmed using a BC2F3 population. The QTLs detected in this study provide promising targets for further genetic characterization and for use in marker-assisted selection to rapidly develop varieties with improved tolerance to anaerobic condition during germination. Ultimately, this trait can be combined with other abiotic stress tolerance QTLs to provide resilient varieties for direct-seeded systems.


Assuntos
Adaptação Fisiológica/genética , Mapeamento Cromossômico , Cromossomos de Plantas/genética , Oryza/genética , Locos de Características Quantitativas , Anaerobiose , Cruzamentos Genéticos , DNA de Plantas/genética , Genes de Plantas/genética , Ligação Genética , Germinação/genética , Escore Lod , Oryza/crescimento & desenvolvimento , Fenótipo , Sementes/genética , Sementes/crescimento & desenvolvimento
3.
Theor Appl Genet ; 124(5): 867-74, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22083356

RESUMO

Short-term submergence is a recurring problem in many rice production areas. The SUB1 gene, derived from the tolerant variety FR13A, has been transferred to a number of widely grown varieties, allowing them to withstand complete submergence for up to 2 weeks. However, in areas where longer-term submergence occurs, improved varieties having higher tolerance levels are needed. To search for novel quantitative trait loci (QTLs) from other donors, an F(2:3) population between IR72 and Madabaru, both moderately tolerant varieties, was investigated. After a repeated phenotyping of 466 families under submergence stress, a subset of 80 families selected from the two extreme phenotypic tails was used for the QTL analysis. Phenotypic data showed transgressive segregation, with several families having an even higher survival rate than the FR13A-derived tolerant check (IR40931). Four QTLs were identified on chromosomes 1, 2, 9, and 12; the largest QTL on chromosome 1 had a LOD score of 11.2 and R (2) of 52.3%. A QTL mapping to the SUB1 region on chromosome 9, with a LOD score of 3.6 and R (2) of 18.6%, had the tolerant allele from Madabaru, while the other three QTLs had tolerant alleles from IR72. The identification of three non-SUB1 QTLs from IR72 suggests that an alternative pathway may be present in this variety that is independent of the ethylene-dependent pathway mediated by the SUB1A gene. These novel QTLs can be combined with SUB1 using marker assisted backcrossing in an effort to enhance the level of submergence tolerance for flood-prone areas.


Assuntos
Adaptação Biológica/genética , Cruzamento/métodos , Oryza/crescimento & desenvolvimento , Oryza/genética , Fenótipo , Locos de Características Quantitativas/genética , Sequência de Bases , Mapeamento Cromossômico , Análise por Conglomerados , Biologia Computacional , Cruzamentos Genéticos , Primers do DNA/genética , Inundações , Escore Lod , Dados de Sequência Molecular , Seleção Genética , Análise de Sequência de DNA , Especificidade da Espécie
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