Publications by authors named "Sara El Kennani"
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
November 2020
Article Synopsis
- Nontruncating variants in the SMARCA2 gene are linked to Nicolaides-Baraitser syndrome (NCBRS), characterized by intellectual disability and congenital anomalies, but other disorders associated with SMARCA2 were unclear.
- Researchers found SMARCA2 variants in 20 individuals with syndromic neurodevelopmental disorders that did not fit the criteria for NCBRS and analyzed these variants functionally and through genetic testing.
- Results revealed a new syndrome called blepharophimosis intellectual disability syndrome (BIS), which shares some features with NCBRS but is distinct both phenotypically and at the molecular level, primarily due to the location of the SMARCA2 variants.
Epigenetic regulation of gene expression is tightly controlled by the dynamic modification of histones by chemical groups, the diversity of which has largely expanded over the past decade with the discovery of lysine acylations, catalyzed from acyl-coenzymes A. We investigated the dynamics of lysine acetylation and crotonylation on histones H3 and H4 during mouse spermatogenesis. Lysine crotonylation appeared to be of significant abundance compared to acetylation, particularly on Lys27 of histone H3 (H3K27cr) that accumulates in sperm in a cleaved form of H3.
View Article and Find Full Text PDFEpigenetic modifications contribute to the determination of cell fate and differentiation. The molecular mechanisms underlying histone variants and post-translational modifications (PTMs) have been studied in the contexts of development, differentiation, and disease. Antibody-based assays have classically been used to target PTMs, but these approaches fail to reveal combinatorial patterns of modifications.
View Article and Find Full Text PDFSystematic quantitative analysis of H2A and H2B variants by targeted proteomics.
Epigenetics Chromatin
January 2018
Background: Histones organize DNA into chromatin through a variety of processes. Among them, a vast diversity of histone variants can be incorporated into chromatin and finely modulate its organization and functionality. Classically, the study of histone variants has largely relied on antibody-based assays.
View Article and Find Full Text PDFMS_HistoneDB, a manually curated resource for proteomic analysis of human and mouse histones.
Epigenetics Chromatin
January 2018
Background: Histones and histone variants are essential components of the nuclear chromatin. While mass spectrometry has opened a large window to their characterization and functional studies, their identification from proteomic data remains challenging. Indeed, the current interpretation of mass spectrometry data relies on public databases which are either not exhaustive (Swiss-Prot) or contain many redundant entries (UniProtKB or NCBI).
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