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Xusheng Wang, Ashutosh K Pandey, Megan K Mulligan, Evan G Williams, Khyobeni Mozhui, Zhengsheng Li, Virginija Jovaisaite, L Darryl Quarles, Zhousheng Xiao, Jinsong Huang, John A Capra, Zugen Chen, William L Taylor, Lisa Bastarache, Xinnan Niu, Katherine S Pollard, Daniel C Ciobanu, Alexander O Reznik, Artem V Tishkov, Igor B Zhulin, Junmin Peng, Stanley F Nelson, Joshua C Denny, Johan Auwerx, Lu Lu, Robert W Williams
Phenome-wide association is a novel reverse genetic strategy to analyze genome-to-phenome relations in human clinical cohorts. Here we test this approach using a large murine population segregating for ∼5 million sequence variants, and we compare our results to those extracted from a matched analysis of gene variants in a large human cohort. For the mouse cohort, we amassed a deep and broad open-access phenome consisting of ∼4,500 metabolic, physiological, pharmacological and behavioural traits, and more than 90 independent expression quantitative trait locus (QTL), transcriptome, proteome, metagenome and metabolome data sets--by far the largest coherent phenome for any experimental cohort (www...
2016: Nature Communications
Bahram Namjou, Mehdi Keddache, Keith Marsolo, Michael Wagner, Todd Lingren, Beth Cobb, Cassandra Perry, Stephanie Kennebeck, Ingrid A Holm, Rongling Li, Nancy A Crimmins, Lisa Martin, Imre Solti, Isaac S Kohane, John B Harley
UNLABELLED: Common variations at the loci harboring the fat mass and obesity gene (FTO), MC4R, and TMEM18 are consistently reported as being associated with obesity and body mass index (BMI) especially in adult population. In order to confirm this effect in pediatric population five European ancestry cohorts from pediatric eMERGE-II network (CCHMC-BCH) were evaluated. METHOD: Data on 5049 samples of European ancestry were obtained from the Electronic Medical Records (EMRs) of two large academic centers in five different genotyped cohorts...
2013: Frontiers in Genetics
Jamie Fitzgerald, Paul Holden, Uwe Hansen
Collagen VI is a component of the extracellular matrix of almost all connective tissues, including cartilage, bone, tendon, muscles and cornea, where it forms abundant and structurally unique microfibrils organized into different suprastructural assemblies. The precise role of collagen VI is not clearly defined although it is most abundant in the interstitial matrix of tissues and often found in close association with basement membranes. Three genetically distinct collagen VI chains, α1(VI), α2(VI) and α3(VI), encoded by the COL6A1...
2013: Connective Tissue Research
Patrizia Sabatelli, Sudheer K Gara, Paolo Grumati, Anna Urciuolo, Francesca Gualandi, Rosa Curci, Stefano Squarzoni, Alessandra Zamparelli, Elena Martoni, Luciano Merlini, Mats Paulsson, Paolo Bonaldo, Raimund Wagener
Collagen VI is an extracellular matrix protein with critical roles in maintaining muscle and skin integrity and function. Skin abnormalities, including predisposition to keratosis pilaris and abnormal scarring, were described in Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) patients carrying mutations in COL6A1, COL6A2, and COL6A3 genes, whereas COL6A5, previously designated as COL29A1, was linked to atopic dermatitis. To gain insight into the function of the newly identified collagen VI α5 and α6 chains in human skin, we studied their expression and localization in normal subjects and in genetically characterized UCMD and BM patients...
January 2011: Journal of Investigative Dermatology
Jamie Fitzgerald, Cathleen Rich, Fiona H Zhou, Uwe Hansen
We report the identification of three new collagen VI genes at a single locus on human chromosome 3q22.1. The three new genes are COL6A4, COL6A5, and COL6A6 that encode the alpha4(VI), alpha5(VI), and alpha6(VI) chains. In humans, the COL6A4 gene has been disrupted by a chromosome break. Each of the three new collagen chains contains a 336-amino acid triple helix flanked by seven N-terminal von Willebrand factor A-like domains and two (alpha4 and alpha6 chains) or three (alpha5 chain) C-terminal von Willebrand factor A-like domains...
July 18, 2008: Journal of Biological Chemistry
Sudheer Kumar Gara, Paolo Grumati, Anna Urciuolo, Paolo Bonaldo, Birgit Kobbe, Manuel Koch, Mats Paulsson, Raimund Wagener
Here we describe three novel collagen VI chains, alpha4, alpha5, and alpha6. The corresponding genes are arranged in tandem on mouse chromosome 9. The new chains structurally resemble the collagen VI alpha3 chain. Each chain consists of seven von Willebrand factor A domains followed by a collagenous domain, two C-terminal von Willebrand factor A domains, and a unique domain. In addition, the collagen VI alpha4 chain carries a Kunitz domain at the C terminus, whereas the collagen VI alpha5 chain contains an additional von Willebrand factor A domain and a unique domain...
April 18, 2008: Journal of Biological Chemistry
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