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1.
Front Plant Sci ; 12: 633247, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33968097

RESUMO

Hybrid breakdown, a form of postzygotic reproductive barrier, has been reported to hinder gene flow in many crosses between wild and cultivated rice. Here, the phenomenon of hybrid breakdown was observed as low-tillering (i.e., low tiller number) in some progeny of an interspecific cross produced in an attempt to introduce Oryza meridionalis Ng (W1625) chromosomal segments into Oryza sativa L. ssp. japonica "Taichung 65" (T65). Low-tillering lines were obtained in BC4-derived progeny from a cross between W1625 and "Taichung 65," but the locus for low-tillering could not be mapped in segregating populations. As a second approach to map the locus for low-tillering, we analyzed an F2 population derived from a cross between the low-tillering lines and a high-yielding indica cultivar, "Takanari." A major QTL for low-tillering, qLTN4, was detected between PCR-based markers MS10 and RM307 on the long arm of chromosome 4, with a LOD score of 15.6. The low-tillering phenotype was associated with weak growth and pale yellow phenotype; however, low-tillering plant had less reduction of grain fertility. In an F4 population (4896 plants), 563 recombinant plants were identified and the low-tillering locus was delimited to a 4.6-Mbp region between markers W1 and C5-indel3729. This region could not be further delimited because recombination is restricted in this region of qLTN4, which is near the centromere. Understanding the genetic basis of hybrid breakdown, including the low-tillering habit, will be important for improving varieties in rice breeding.

2.
Am J Med Genet A ; 185(3): 866-870, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33300650

RESUMO

Infantile liver failure syndrome type 1 (ILFS1) is a recently recognized autosomal recessive disorder caused by deleterious mutations in the leucyl-tRNA synthetase 1 gene (LARS1). The LARS1 enzyme is responsible for incorporation of the amino acid leucine during protein polypeptide synthesis. Individuals with LARS1 mutations typically show liver failure from infancy to early childhood during periods of illness or other physiological stress. While 25 patients from 15 families with ILFS1 have been reported in the literature, histological reports from autopsy findings are limited. We report here a premature male neonate who presented with severe intrauterine growth retardation, microcytic anemia, and fulminant liver failure, and who was a compound heterozygote for two novel deleterious mutations in LARS1. An autopsy showed fulminant hepatitis-like hepatocellular injury and fibrogenesis in the liver and a lack of uniformity in skeletal muscle, accompanied by the disruption of striated muscle fibers. Striking dysgenesis in skeletal muscle detected in the present case indicates the effect of LARS1 functional deficiency on the musculature. Whole-exome sequencing may be useful for neonates with unexplained early liver failure if extensive genetic and metabolic testing is inconclusive.


Assuntos
Doenças do Prematuro/genética , Leucina-tRNA Ligase/genética , Falência Hepática/genética , Anormalidades Musculoesqueléticas/genética , Mutação de Sentido Incorreto , Mutação Puntual , Sítios de Splice de RNA/genética , Substituição de Aminoácidos , Anemia Neonatal/genética , Éxons/genética , Evolução Fatal , Retardo do Crescimento Fetal/genética , Genes Recessivos , Heterozigoto , Humanos , Hiperbilirrubinemia Neonatal/genética , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/patologia , Íntrons/genética , Leucina-tRNA Ligase/deficiência , Cirrose Hepática/etiologia , Falência Hepática/patologia , Falência Hepática Aguda/etiologia , Falência Hepática Aguda/patologia , Masculino , Insuficiência de Múltiplos Órgãos/etiologia , Músculo Esquelético/patologia , Anormalidades Musculoesqueléticas/patologia , Alinhamento de Sequência , Síndrome , Sequenciamento do Exoma
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