Monthly Archives: October 2017

Polycomb epigenetic silencing is mediated by specific DNA-binding recruiters

Posted on October 30, 2017 by DWN

Polycomb group (PcG) proteins are essential for regulation of cell identity and development in plants and animals. PcG proteins are organized into diverse Polycomb repressive complexes (PRCs), among which PRC2 is probably the best described and most evolutionarily con­served. The … Continue reading →

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NIH “completes” the atlas of human DNA differences that influence gene expression

Posted on October 30, 2017 by DWN

This news is a little bit misleading –– because scientists will continue to uncover increasingly more information, with each passing month and year. Wednesday, October 11, 2017 Sections of the genome, known as expression Quantitative Trait Loci (eQTL) work to … Continue reading →

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The Genotype-Tissue Expression (GTEx) Project: Associations between genetic variation and gene expression in healthy tissues — Part I

Posted on October 29, 2017 by DWN

These articles represent the follow-up (the scientific data) to the GEITP email of October 16th [see far below]. How does the same DNA sequence, present in virtually every cell in the body, give rise to diverse tissues that have distinct … Continue reading →

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The Genotype-Tissue Expression (GTEx) Project: Associations between genetic variation and gene expression in healthy tissues — Part II

Posted on October 29, 2017 by DWN

These articles represent the follow-up (the scientific data) to the GEITP email of October 16th [see far below]. How does the same DNA sequence, present in virtually every cell in the body, give rise to diverse tissues that have distinct … Continue reading →

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Meta-analysis of GWAS identifies 17 new Parkinson disease (PD) risk loci: key role for autophagy and lysosomal biology ??!!??

Posted on October 28, 2017 by DWN

Parkinson disease (PD) is the second most common neurodegenerative disorder (Alzheimer disease being first). The prevalence of PD is 3–4% in individuals over 80 years of age. PD is characterized by loss of dopaminergic neurons in the substantia nigra and … Continue reading →

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Breast cancer genetics revealed: 72 new mutations discovered by a large consortium comprising ~300 institutions around the world

Posted on October 24, 2017 by DWN

This is a layman’s report on several published papers by researchers from ~300 institutions worldwide (the scientific reports will follow later). As GEITP has shared often on these pages, breast cancer is just another of many multifactorial traits –– contributed … Continue reading →

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GWAS identifies 112 new loci for body mass index (BMI), and suggesting that lymphocytes are relevant to body weight regulation and obesity …??

Posted on October 24, 2017 by DWN

Obesity, which appears to be at least in part heritable, is a risk factor for various diseases. Numerous genome-wide association studies (GWAS) have identified more than 100 DNA loci associated with body mass index (BMI) –– the most commonly used … Continue reading →

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Kidney-specific genetic control module (in mouse) governs endocrine regulation of the cytochrome P450 gene Cyp27b1 essential for vitamin D3 activation

Posted on October 22, 2017 by DWN

The vitamin D endocrine system in mammals is very complex –– regulating mineral homeostasis via enzyme activities in the intestine, kidney, and bone. Metabolic activation of vitamin D3 to its hormonal form, 1a,25-dihydroxyvitamin D3 [1,25(OH)2D3], i.e. most potent ligand for … Continue reading →

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Integrating evolutionary & regulatory information with a multispecies approach implicates genes and pathways in Obsessive-Compulsive Disorder (OCD)

Posted on October 20, 2017 by DWN

Obsessive-compulsive disorder (OCD) is a highly heritable (h2 = 0.27–0.65), debilitating neuropsychiatric disorder –– characterized by intrusive thoughts and time-consuming repetitive behaviors [as discussed recently in these GEITP pages, the h2 heritability index ranges from 1.00 (a trait reflecting 100% … Continue reading →

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Linkage disequilibrium (LD)-dependent architecture of human complex traits curiously shows a mechanism of negative selection

Posted on October 18, 2017 by DWN

This report summarizes a project of trying to further understand human complex diseases. WHY should this topic be of interest to gene-environment interactions? As we’ve often discussed in these GEITP pages, multifactorial traits include height, body mass index, type-2 diabetes, … Continue reading →

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