Alpha T-catenin (CTNNA3): a gene in the hand is worth two in the nest

Smith, James D.; Meehan, Maria; Crean, John; McCann, Amanda

doi:10.1007/s00018-011-0728-0

Cited by 18 publications

(18 citation statements)

References 37 publications

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“…It is transcribed using multiple promoters, which produce alternate transcripts (31). The importance of CTNNA3 in maintaining cell-cell adhesion may play a role in allergy.…”

Section: Discussionmentioning

confidence: 99%

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Fung

Glessner

et al. 2015

The Journal of Immunology

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Food allergy is a significant public health concern, especially among children. Previous candidate gene studies suggested a few susceptibility loci for food allergy, but no study investigated the contribution of copy number variations (CNVs) to food allergy on a genome-wide scale. To investigate the genetics of food allergy, we performed CNV assessment using high-resolution genome-wide single nucleotide polymorphism arrays. CNV calls from a total of 357 cases with confirmed food allergy and 3980 controls were analyzed within a discovery cohort, followed by a replication analysis composed of 167 cases and 1573 controls. We identified that CNVs in CTNNA3 were significantly associated with food allergy in both the discovery cohort and the replication cohort. Of particular interest, CTNNA3 CNVs hit exons or intron regions rich in histone marker H3K4Me1. CNVs in a second gene (RBFOX1) showed a significant association (p = 7.35 × 10−5) with food allergy at the genome-wide level in our meta-analysis of the European ancestry cohorts. The presence of these CNVs was confirmed by quantitative PCR. Furthermore, knockdown of CTNNA3 resulted in upregulation of CD63 and CD203c in mononuclear cells upon PMA stimulation, suggesting a role in sensitization to allergen. We uncovered at least two plausible genes harboring CNV loci that are enriched in pediatric patients with food allergies. The novel gene candidates discovered in this study by genome-wide CNV analysis are compelling drug and diagnostic targets for food allergy.

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“…It is transcribed using multiple promoters, which produce alternate transcripts (31). The importance of CTNNA3 in maintaining cell-cell adhesion may play a role in allergy.…”

Section: Discussionmentioning

confidence: 99%

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Fung

Glessner

et al. 2015

The Journal of Immunology

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“…Interestingly, three of the genes are located within introns of genes encoding different α-Catenin proteins [known to facilitate interactions between cadherins and actin fi laments, Pokutta et al ( 2008 )], and in all cases the LRRTM genes are transcribed in the opposite direction as the CTNN genes, suggesting coevolution of the of two families; LRRTM1 is located within CTNNA2 , LRRTM2 is located within CTNNA1 , and LRRTM3 is located within CTNNA3 (Lauren et al 2003 ); [see also Smith et al ( 2011b )]. Recently it was demonstrated that CTNNA1 and CTNNA2 contain alternative bidirectional promoters that are used for the transcription of CTNNA1 and CTNNA2 as well as LRRTM2 and LRRTM1 , respectively.…”

Section: Genes and Proteinsmentioning

confidence: 96%

Neural Cell Adhesion Molecules Belonging to the Family of Leucine-Rich Repeat Proteins

Winther

Walmod

2013

Advances in Neurobiology

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Leucine-rich repeats (LRRs) are motifs that form protein-ligand interaction domains. There are approximately 140 human genes encoding proteins with extracellular LRRs. These encode cell adhesion molecules (CAMs), proteoglycans, G-protein-coupled receptors, and other types of receptors. Here we give a brief description of 36 proteins with extracellular LRRs that all can be characterized as CAMs or putative CAMs expressed in the nervous system. The proteins are involved in multiple biological processes in the nervous system including the proliferation and survival of cells, neuritogenesis, axon guidance, fasciculation, myelination, and the formation and maintenance of synapses. Moreover, the proteins are functionally implicated in multiple diseases including cancer, hearing impairment, glaucoma, Alzheimer's disease, multiple sclerosis, Parkinson's disease, autism spectrum disorders, schizophrenia, and obsessive-compulsive disorders. Thus, LRR-containing CAMs constitute a large group of proteins of pivotal importance for the development, maintenance, and regeneration of the nervous system.

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“…the heart, it can be found at AJs (Dejana et al 2009;Li and Radice 2010). The mammalian α-catenin family consists of three members: αE-catenin, which is ubiqioutisly expressed, αN-catenin, which is exclusively found in the brain, and αT-catenin (Smith et al 2011;Maiden and Hardin 2011). Lastly, several members of the p120 subfamily of armadillo proteins, such as δ-catenin at synapses, bind classical cadherins and are found at AJs (Carnahan et al 2011;McCrea and Park 2007;Pieters et al 2012).…”

Section: )mentioning

confidence: 97%

Adherens Junctions in Mammalian Development, Homeostasis and Disease: Lessons from Mice

Boggetti

Niessen

2012

Subcellular Biochemistry

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Mice have proven to be a particularly powerful model to study molecular mechanisms of development and disease. The reason for this is the close evolutionary relationship between rodents and humans, similarities in physiological mechanisms in mice and human, and the large number of techniques available to study gene functions in mice. A large number of mice mutations, either germ line, conditional or inducible, have been generated in the past years for adherens junctions components, and the number is still increasing. In this review we will discuss mice models that have contributed to understanding the developmental and physiological role of adherens junctions and their components in mammals and have revealed novel mechanistic aspects of how adherens junctions regulate morphogenesis and tissue homeostasis.

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Alpha T-catenin (CTNNA3): a gene in the hand is worth two in the nest

Cited by 18 publications

References 37 publications

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Neural Cell Adhesion Molecules Belonging to the Family of Leucine-Rich Repeat Proteins

Adherens Junctions in Mammalian Development, Homeostasis and Disease: Lessons from Mice

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