Idioma:

Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders

Velasco, Guillaume ; Ulveling, Damien ; Rondeau, Sophie ; Marzin, Pauline ; Unoki, Motoko ; Cormier-Daire, Valérie ; Francastel, Claire

International journal of molecular sciences, 2021-04, Vol.22 (7), p.3735 [Periódico revisado por pares]

Switzerland: MDPI AG

Texto completo disponível

Citações Citado por

Enviar para

Título:
Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders
Autor: Velasco, Guillaume ; Ulveling, Damien ; Rondeau, Sophie ; Marzin, Pauline ; Unoki, Motoko ; Cormier-Daire, Valérie ; Francastel, Claire
Assuntos: Animal models ; Binding sites ; biomarkers ; Deoxyribonucleic acid ; DNA ; DNA (Cytosine-5-)-Methyltransferases ; DNA (Cytosine-5-)-Methyltransferases - genetics ; DNA fingerprinting ; DNA Methylation ; DNA Methylation - genetics ; DNA methylation profiling ; DNA Methyltransferase 3A ; DNA Methyltransferase 3B ; DNA-Binding Proteins ; DNA-Binding Proteins - genetics ; Enzymes ; epigenetic crosstalks ; Epigenetics ; Gene expression ; Genetic Diseases, Inborn ; Genetic Diseases, Inborn - genetics ; Genetic Diseases, Inborn - metabolism ; Genomes ; Heterochromatin ; Histone H3 ; histone methylation ; Histone-Lysine N-Methyltransferase ; Histone-Lysine N-Methyltransferase - genetics ; Histones ; Histones - genetics ; Histones - metabolism ; Humans ; Life Sciences ; Lysine ; Mammals ; Mutation ; Neoplasm Proteins ; Neoplasm Proteins - genetics ; Neurodevelopmental disorders ; Proteins ; Rare Diseases ; Rare Diseases - genetics ; Rare Diseases - metabolism ; Regulatory sequences ; Transcription factors
É parte de: International journal of molecular sciences, 2021-04, Vol.22 (7), p.3735
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
PMCID: PMC8038329
Present address: Scipio Bioscience, ICM-iPEPS, Hôpital Pitié Salpêtrière, 75013 Paris, France.
Descrição: DNA methylation (DNAme) profiling is used to establish specific biomarkers to improve the diagnosis of patients with inherited neurodevelopmental disorders and to guide mutation screening. In the specific case of mendelian disorders of the epigenetic machinery, it also provides the basis to infer mechanistic aspects with regard to DNAme determinants and interplay between histone and DNAme that apply to humans. Here, we present comparative methylomes from patients with mutations in the de novo DNA methyltransferases DNMT3A and DNMT3B, in their catalytic domain or their N-terminal parts involved in reading histone methylation, or in histone H3 lysine (K) methylases NSD1 or SETD2 (H3 K36) or KMT2D/MLL2 (H3 K4). We provide disease-specific DNAme signatures and document the distinct consequences of mutations in enzymes with very similar or intertwined functions, including at repeated sequences and imprinted loci. We found that KMT2D and SETD2 germline mutations have little impact on DNAme profiles. In contrast, the overlapping DNAme alterations downstream of NSD1 or DNMT3 mutations underlines functional links, more specifically between NSD1 and DNMT3B at heterochromatin regions or DNMT3A at regulatory elements. Together, these data indicate certain discrepancy with the mechanisms described in animal models or the existence of redundant or complementary functions unforeseen in humans.
Editor: Switzerland: MDPI AG
Idioma: Inglês

Links

Voltar para lista de resultados

Anterior Resultado 7 Avançar Ir para próxima página

Realização: Logos de Redes Sociais:

Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders

Velasco, Guillaume ; Ulveling, Damien ; Rondeau, Sophie ; Marzin, Pauline ; Unoki, Motoko ; Cormier-Daire, Valérie ; Francastel, Claire

Switzerland: MDPI AG

Buscando em bases de dados remotas. Favor aguardar.