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2.
Clin Epigenetics ; 11(1): 35, 2019 02 26.
Artigo em Inglês | MEDLINE | ID: mdl-30808399

RESUMO

BACKGROUND: Genome-wide studies have begun to link subtle variations in both allelic DNA methylation and parent-of-origin genetic effects with early development. Numerous reports have highlighted that the placenta plays a critical role in coordinating fetal growth, with many key functions regulated by genomic imprinting. With the recent description of wide-spread polymorphic placenta-specific imprinting, the molecular mechanisms leading to this curious polymorphic epigenetic phenomenon is unknown, as is their involvement in pregnancies complications. RESULTS: Profiling of 35 ubiquitous and 112 placenta-specific imprinted differentially methylated regions (DMRs) using high-density methylation arrays and pyrosequencing revealed isolated aberrant methylation at ubiquitous DMRs as well as abundant hypomethylation at placenta-specific DMRs. Analysis of the underlying chromatin state revealed that the polymorphic nature is not only evident at the level of allelic methylation, but DMRs can also adopt an unusual epigenetic signature where the underlying histones are biallelically enrichment of H3K4 methylation, a modification normally mutually exclusive with DNA methylation. Quantitative expression analysis in placenta identified two genes, GPR1-AS1 and ZDBF2, that were differentially expressed between IUGRs and control samples after adjusting for clinical factors, revealing coordinated deregulation at the chromosome 2q33 imprinted locus. CONCLUSIONS: DNA methylation is less stable at placenta-specific imprinted DMRs compared to ubiquitous DMRs and contributes to privileged state of the placenta epigenome. IUGR-associated expression differences were identified for several imprinted transcripts independent of allelic methylation. Further work is required to determine if these differences are the cause IUGR or reflect unique adaption by the placenta to developmental stresses.


Assuntos
Metilação de DNA , Retardo do Crescimento Fetal/genética , Perfilação da Expressão Gênica/métodos , Placenta/química , Cromossomos Humanos Par 2/genética , Ilhas de CpG , Proteínas de Ligação a DNA/genética , Feminino , Retardo do Crescimento Fetal/metabolismo , Regulação da Expressão Gênica , Impressão Genômica , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Histonas/metabolismo , Humanos , Linhagem , Gravidez
3.
Sci Rep ; 7(1): 6714, 2017 07 27.
Artigo em Inglês | MEDLINE | ID: mdl-28751691

RESUMO

In peach, the flat phenotype is caused by a partially dominant allele in heterozygosis (Ss), fruits from homozygous trees (SS) abort a few weeks after fruit setting. Previous research has identified a SSR marker (UDP98-412) highly associated with the trait, found suitable for marker assisted selection (MAS). Here we report a ∼10 Kb deletion affecting the gene PRUPE.6G281100, 400 Kb upstream of UDP98-412, co-segregating with the trait. This gene is a leucine-rich repeat receptor-like kinase (LRR-RLK) orthologous to the Brassinosteroid insensitive 1-associated receptor kinase 1 (BAK1) group. PCR markers suitable for MAS confirmed its strong association with the trait in a collection of 246 cultivars. They were used to evaluate the DNA from a round fruit derived from a somatic mutation of the flat variety 'UFO-4', revealing that the mutation affected the flat associated allele (S). Protein BLAST alignment identified significant hits with genes involved in different biological processes. Best protein hit occurred with AtRLP12, which may functionally complement CLAVATA2, a key regulator that controls the stem cell population size. RT-PCR analysis revealed the absence of transcription of the partially deleted allele. The data support PRUPE.6G281100 as a candidate gene for flat shape in peach.


Assuntos
Proteínas de Arabidopsis/genética , Frutas/genética , Regulação da Expressão Gênica de Plantas , Proteínas de Plantas/genética , Proteínas Serina-Treonina Quinases/genética , Prunus persica/genética , Característica Quantitativa Herdável , Alelos , Arabidopsis/genética , Arabidopsis/metabolismo , Proteínas de Arabidopsis/metabolismo , Sequência de Bases , Frutas/anatomia & histologia , Frutas/metabolismo , Marcadores Genéticos , Haplótipos , Isoenzimas/genética , Isoenzimas/metabolismo , Repetições de Microssatélites , Fenótipo , Proteínas de Plantas/metabolismo , Proteínas Serina-Treonina Quinases/metabolismo , Prunus persica/anatomia & histologia , Prunus persica/metabolismo , Seleção Genética , Alinhamento de Sequência , Homologia de Sequência do Ácido Nucleico
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