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Frew JW
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Inter-rater reliability of phenotypes and exploratory genotype-phenotype (opens in new window)

BRITISH JOURNAL OF DERMATOLOGY 2019 SEP; 181(3):566-571
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Background Genotype-phenotype correlation measures the correlation
Blus BJ
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Substrate Affinity and Specificity of the ScSth1p Bromodomain Are (opens in new window)

STRUCTURE 2019 SEP 3; 27(9):1460-1468.e3
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Bromodomains recognize a wide range of acetylated lysines in histones
Naik HB
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A Call to Accelerate Hidradenitis Suppurativa Research and Improve (opens in new window)

JAMA DERMATOLOGY 2019 SEP; 155(9):1005-1006
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Weinberg DN, Papillon-Cavanagh S, Chen H, Yue Y, Chen X, Rajagopalan KN, Horth C, McGuire JT, Xu X, Nikbakht H, Lemiesz AE, Marchione DM, Marunde MR, Meiners MJ, Cheek MA, Keogh MC, Bareke E, Djedid A, Harutyunyan AS, Jabado N, Garcia BA, Li H, Allis CD, Majewski J, Lu C
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The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape (opens in new window)

NATURE 2019 SEP 12; 573(7773):281-286
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Enzymes that catalyse CpG methylation in DNA, including the DNA methyltransferases 1 (DNMT1), 3A (DNMT3A) and 3B (DNMT3B), are indispensable for mammalian tissue development and homeostasis1-4. They are also implicated in human developmental disorders and cancers5-8, supporting the critical role of DNA methylation in the specification and maintenance of cell fate. Previous studies have suggested that post-translational modifications of histones are involved in specifying patterns of DNA methyltransferase localization and DNA methylation at promoters and actively transcribed gene bodies9-11. However, the mechanisms that control the establishment and maintenance of intergenic DNA methylation remain poorly understood. Tatton-Brown-Rahman syndrome (TBRS) is a childhood overgrowth disorder that is defined by germline mutations in DNMT3A. TBRS shares clinical features with Sotos syndrome (which is caused by haploinsufficiency of NSD1, a histone methyltransferase that catalyses the dimethylation of histone H3 at K36 (H3K36me2)8,12,13), which suggests that there is a mechanistic link between these two diseases. Here we report that NSD1-mediated H3K36me2 is required for the recruitment of DNMT3A and maintenance of DNA methylation at intergenic regions. Genome-wide analysis shows that the binding and activity of DNMT3A colocalize with H3K36me2 at non-coding regions of euchromatin. Genetic ablation of Nsd1 and its paralogue Nsd2 in mouse cells results in a redistribution of DNMT3A to H3K36me3-modified gene bodies and a reduction in the methylation of intergenic DNA. Blood samples from patients with Sotos syndrome and NSD1-mutant tumours also exhibit hypomethylation of intergenic DNA. The PWWP domain of DNMT3A shows dual recognition of H3K36me2 and H3K36me3 in vitro, with a higher binding affinity towards H3K36me2 that is abrogated by TBRS-derived missense mutations. Together, our study reveals a trans-chromatin regulatory pathway that connects aberrant intergenic CpG methylation to human neoplastic and developmental overgrowth.
Drutman SB
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Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic (opens in new window)

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF 2019 SEP 17; 116(38):19055-19063
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Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and
Roeder RG
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50+years of eukaryotic transcription: an expanding universe of factors (opens in new window)

NATURE STRUCTURAL & MOLECULAR BIOLOGY 2019 SEP; 26(9):783-791
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The landmark 1969 discovery of nuclear RNA polymerases I, II and III in
Letts JA
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Structures of Respiratory Supercomplex I+III2 Reveal Functional and (opens in new window)

MOLECULAR CELL 2019 SEP 19; 75(6):1131-1146.e6
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The mitochondrial electron transport chain complexes are organized into
Chou HT
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The Molecular Architecture of Native BBSome Obtained by an Integrated (opens in new window)

STRUCTURE 2019 SEP 3; 27(9):1384-1394.e4
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The unique membrane composition of cilia is maintained by a diffusion
Spiegelman NA
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SIRT2 and Lysine Fatty Acylation Regulate the Activity of RalB and Cell (opens in new window)

ACS CHEMICAL BIOLOGY 2019 SEP; 14(9):2014-2023
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Protein lysine fatty acylation is increasingly recognized as a prevalent
Krueger JG
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IL-17A inhibition by secukinumab induces early clinical, (opens in new window)

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY 2019 SEP; 144(3):750-763
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Background: Hyperactivity of the IL-23/IL-17 axis is central to plaque