Dataset Information

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.

ABSTRACT:

Introduction

Mendelian disorders of the epigenetic machinery are a growing group of disorders exhibiting several overlapping clinical features that are probably due to common abnormalities at the epigenomic level, which lead to downstream convergence at the transcriptomic level.

Case presentation

Here, we report a new case of short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) syndrome with a severe ocular phenotype and hypogonadism.

Conclusion

Similarities and connections with other mendelian disorders of the epigenetic machinery are highlighted, confirming SBIDDS' enrolment as a new spoke of the epigenetic machinery wheel.

SUBMITTER: Aleo S

PROVIDER: S-EPMC9843552 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature

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Publications

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.

Aleo Sebastiano S Pezzani Lidia L Milani Donatella D Pezzoli Laura L Marchisio Paola P Iascone Maria M

Molecular syndromology 20220607 6

<h4>Introduction</h4>Mendelian disorders of the epigenetic machinery are a growing group of disorders exhibiting several overlapping clinical features that are probably due to common abnormalities at the epigenomic level, which lead to downstream convergence at the transcriptomic level.<h4>Case presentation</h4>Here, we report a new case of short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) syndrome with a severe ocular phenotype and hypogonadism.<h4>Concl ...[more]

PMID: 36660030

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Project description:BackgroundEpigenetic regulatory mechanisms are divergent across the animal kingdom, yet these mechanisms are not well studied in non-model organisms. Unique features of cephalopods make them attractive for investigating behavioral, sensory, developmental, and regenerative processes, and recent studies have elucidated novel features of genome organization and gene and transposon regulation in these animals. However, it is not known how epigenetics regulates these interesting cephalopod features. We combined bioinformatic and molecular analysis of Octopus bimaculoides to investigate the presence and pattern of DNA methylation and examined the presence of DNA methylation and 3 histone post-translational modifications across tissues of three cephalopod species.ResultsWe report a dynamic expression profile of the genes encoding conserved epigenetic regulators, including DNA methylation maintenance factors in octopus tissues. Levels of 5-methyl-cytosine in multiple tissues of octopus, squid, and bobtail squid were lower compared to vertebrates. Whole genome bisulfite sequencing of two regions of the brain and reduced representation bisulfite sequencing from a hatchling of O. bimaculoides revealed that less than 10% of CpGs are methylated in all samples, with a distinct pattern of 5-methyl-cytosine genome distribution characterized by enrichment in the bodies of a subset of 14,000 genes and absence from transposons. Hypermethylated genes have distinct functions and, strikingly, many showed similar expression levels across tissues while hypomethylated genes were silenced or expressed at low levels. Histone marks H3K27me3, H3K9me3, and H3K4me3 were detected at different levels across tissues of all species.ConclusionsOur results show that the DNA methylation and histone modification epigenetic machinery is conserved in cephalopods, and that, in octopus, 5-methyl-cytosine does not decorate transposable elements, but is enriched on the gene bodies of highly expressed genes and could cooperate with the histone code to regulate tissue-specific gene expression.

Dataset Information

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.

Introduction

Case presentation

Conclusion

Publications

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.

Similar Datasets

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