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Phyto-nutraceutical promise of Brassica vegetables in post-genomic era: a comprehensive review.
Planta
December 2024
Institute of Agricultural Sciences, SOA University, Bhubaneswar, 751029, India.
Brassica vegetables are one of the possible solutions to tackle the emerging human diseases and malnutrition due to their rich content of phyto-nutraceutaical compounds. The genomics enabled tools have facilitated the elucidation of molecular regulation, mapping of genes/QTLs governing nutraceutical compounds, and development of nutrient-rich Brassica vegetables. The enriched food products or foods as whole termed as functional foods are intended to provide health benefits.
View Article and Find Full Text PDFEntangled and non-modular enhancer sequences producing independent spatial activities.
Sci Adv
November 2024
Ludwig-Maximilians Universität München, Fakultät für Biologie, Biozentrum, Planegg-Martinsried, Germany.
The modularity of transcriptional enhancers is central to our understanding of morphological evolution, allowing specific changes to a gene expression pattern component, without affecting others. Enhancer modularity refers to physically separated stretches of regulatory sequence producing discrete spatiotemporal transcriptional activity. This concept stems from assays that test the sufficiency of a DNA segment to drive spatial reporter expression resembling that of the corresponding gene.
View Article and Find Full Text PDFRe-appraising the evidence for the source, regulation and function of p53-family isoforms.
Nucleic Acids Res
November 2024
RECAMO, Masaryk Memorial Cancer Institute, Zluty kopec 7, Brno 65653, Czech Republic.
The p53 family of proteins evolved from a common ancestor into three separate genes encoding proteins that act as transcription factors with distinct cellular roles. Isoforms of each member that lack specific regions or domains are suggested to result from alternative transcription start sites, alternative splicing or alternative translation initiation, and have the potential to exponentially increase the functional repertoire of each gene. However, evidence supporting the presence of individual protein variants at functional levels is often limited and is inferred by mRNA detection using highly sensitive amplification techniques.
View Article and Find Full Text PDFImplementation of a dyadic nomenclature for monogenic diseases.
Am J Hum Genet
September 2024
Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address:
Article Synopsis
- Establishing which specific disease entity to focus on is crucial for accurately assessing the relationship between genes and monogenic disorders, influencing the classification of gene-disease validity and variant pathogenicity.* -
- Due to some genes affecting multiple phenotypes, a continuous process of re-evaluating disease names and categories is needed, coordinated by the Disease Naming Advisory Committee (DNAC) formed by ClinGen, Mondo, and OMIM.* -
- The DNAC aims to create consistent guidance for disease naming across various groups, improving communication and standardization in gene-disease research, while addressing existing inconsistencies in the identification of monogenic disorders.*
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
medRxiv
July 2024
Genomics and Inherited Disease Program, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia.
Background: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ~1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity. Here we report work by the ClinGen Hereditary Cardiovascular Disorders Gene Curation Expert Panel (HCVD-GCEP) to reappraise the clinical validity of previously curated and new putative HCM genes.
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