Microarray analysis reveals genes and functional networks relevant to the predisposition for inverted teats in pigs
Ontology highlight
ABSTRACT:
ORGANISM(S): Sus scrofa
SUBMITTER: Klaus Wimmers
PROVIDER: E-GEOD-29340 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
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Project description:The inverted teat defect is an inherited disorder characterised by the failure of teats to protrude from the udder surface. The number and identity of relevant genes are unknown. Simultaneously, 24,123 probe-sets were screened, of which some 15,000 had present calls and were analysed for differential expression between mesenchymal and epithelial tissue of three categories of teats, i.e. normal teats of non-affected (NN) and affected animals (AN) and inverted teats (AI) of the later.
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Project description:The inverted teat defect is an inherited disorder characterised by the failure of teats to protrude from the udder surface. The number and identity of relevant genes are unknown. Simultaneously, 1,587 probe-sets were screened, of which some 1,000 had present calls and were analysed for differential expression between mesenchymal and epithelial tissue of three categories of teats, i.e. normal teats of non-affected (NN) and affected animals (AN) and inverted teats (AI) of the later. RNAs of mesenchymal and epithelial teat tissues of 5 non-affected and 5 affected animals were hybridized to custom-designed application-specific array.
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Project description:The inverted teat defect is an inherited disorder characterised by the failure of teats to protrude from the udder surface. The number and identity of relevant genes are unknown. Simultaneously, 1,587 probe-sets were screened, of which some 1,000 had present calls and were analysed for differential expression between mesenchymal and epithelial tissue of three categories of teats, i.e. normal teats of non-affected (NN) and affected animals (AN) and inverted teats (AI) of the later.
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Project description:DNA replication errors are a major driver of evolution—from single nucleotide polymorphisms to large-scale copy number variations (CNVs). Here we test a specific replication-based model to explain the generation of interstitial, inverted triplications. While no genetic information is lost, the novel inversion junctions and increased copy number of the included sequences create the potential for adaptive phenotypes. The model—Origin-Dependent Inverted-Repeat Amplification (ODIRA)—proposes that a replication error at pre-existing short, interrupted, inverted repeats in genomic sequences generates an extrachromosomal, inverted dimeric, autonomously replicating intermediate; subsequent genomic integration of the dimer yields this class of CNV without loss of distal chromosomal sequences. We used a combination of in vitro and in vivo approaches to test the feasibility of the proposed replication error and its downstream consequences on chromosome structure in the yeast Saccharomyces cerevisiae. We show that the proposed replication error—the ligation of leading and lagging nascent strands to create “closed” forks—can occur in vitro at short, interrupted inverted repeats. The removal of molecules with two closed forks results in a hairpin-capped linear duplex that we show replicates in vivo to create an inverted, dimeric plasmid that subsequently integrates into the genome by homologous recombination, creating an inverted triplication. While other models have been proposed to explain inverted triplications and their derivatives, our model can also explain the generation of human, de novo, inverted amplicons that have a 2:1 mixture of sequences from both homologues of a single parent—a feature readily explained by a plasmid intermediate that arises from one homologue and integrates into the other homologue prior to meiosis. Our tests of key features of ODIRA lend support to this mechanism and suggest further avenues of enquiry to unravel the origins of interstitial, inverted CNVs pivotal in human health and evolution.
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