Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/s41436-019-0546-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mapping the microRNA landscape in the older adult brain and its genetic contribution to neuropsychiatric conditions.
Nat Aging
December 2024
Department of Psychiatry, University of California, Davis, Sacramento, CA, USA.
MicroRNAs (miRNAs) play a crucial role in regulating gene expression and influence many biological processes. Despite their importance, understanding of how genetic variation affects miRNA expression in the brain and how this relates to brain disorders remains limited. Here we investigated these questions by identifying microRNA expression quantitative trait loci (miR-QTLs), or genetic variants associated with brain miRNA levels, using genome-wide small RNA sequencing profiles from dorsolateral prefrontal cortex samples of 604 older adult donors of European ancestry.
View Article and Find Full Text PDFIdentification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.
Am J Med Genet A
November 2024
Univ Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de Recherche en Santé, Environnement et Travail)-UMR_S1085, Rennes, France.
Article Synopsis
- FSH (follicle stimulating hormone) is crucial for fertility, ovarian function, and can cause reproductive disorders like OHSS and POI when variations occur in its receptor (FSHR).
- A case study identified a patient with primary amenorrhea and delayed puberty who carried two deletions in the FSHR gene, leading to complete loss of function of both alleles.
- The research highlights the complexity of genetic factors in reproductive health and suggests incorporating CNV (copy number variation) detection in diagnosing POI for improved patient care.
Population-wide DNA methylation polymorphisms at single-nucleotide resolution in 207 cotton accessions reveal epigenomic contributions to complex traits.
Cell Res
December 2024
Zhejiang Provincial Key Laboratory of Crop Genetic Resources, the Advance Seed Institute, Key Laboratory of Plant FactoryGeneration-adding Breeding, Ministry of Agriculture and Rural Affairs, College of Agriculture and Biotechnology, Zhejiang University, Hangzhou, Zhejiang, China.
Article Synopsis
- DNA methylation is crucial for regulating crop development, but its relationship with genetic variations and traits in natural populations is not fully understood.
- By analyzing cotton fibers, the study found over 287 million single methylation polymorphisms (SMPs), vastly outnumbering single nucleotide polymorphisms (SNPs), highlighting the importance of methylation in gene expression.
- The research identified numerous cis-methylation quantitative trait loci (cis-meQTLs) that are significant for fiber traits, indicating that many gene expression variations are linked to methylation rather than traditional genetic variations, opening new avenues for crop breeding improvement.
Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR.
Genome Med
October 2024
Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.
Article Synopsis
- - The study focuses on the LPA kringle IV type-2 (KIV-2) VNTR, a repetitive genomic region that is crucial for understanding plasma lipoprotein(a) levels, which are linked to cardiovascular risks and vary between individuals and populations.
- - Researchers utilized a new method called UMI-ONT-Seq for sequencing, which allowed them to detect single nucleotide polymorphisms (SNPs), map haplotypes, and quantify VNTR units in the KIV-2 region across various human samples.
- - Results showed that UMI-ONT-Seq effectively identified KIV-2 SNPs at very low levels with high accuracy, and the repeat number of KIV-2 units matched well
RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.
J Genet Genomics
December 2024
Department of Biology, Chungnam National University, Daejeon 34134, Republic of Korea. Electronic address:
Williams syndrome (WS) is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23, characterized by intellectual disability, distinctive craniofacial and dental features, and cardiovascular problems. Previous studies have explored the roles of individual genes within these microdeletions in contributing to WS phenotypes.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!