Several genes have been recognized as most responsible for development of PEX syndrome, in particular lysyl oxidase-like 1 (LOXL1) gene polymorphism on chromosome 15q24.1 in the populations investigated, with a contribution of additional genes with relatively small effects (clustrein, contactin
associated protein-like 2 (CNTNAP2), apolipoprotein E, glutathione S-transferase, adenosine, and tumor necrosis factor-alpha (TNF-[alpha])).
The target gene from GO enrichment of known IncRNA apparently pointed to ENSRNOG00000006617 (P<0.05), thus we singled out the known IncRNA gene ENSRN0G00000006617 named rno-Cntnap2 (contactin
associated protein-like 2).
By selecting for one protein characteristic of dopaminergic progenitors, called contactin
2, they isolated progenitors and transplanted them into rats modeling Parkinson's disease.
"In January, I suffered a stroke after a nick in theartery following some contactin
the game at Newcastle," said Rimmer, who qualified for Wales through having a maternal grandfather from Newport.
PTPRB contains extracellular fibronectin domains that interact with cell adhesion molecules such as contactin
. To date, only a single study implicated PTPRB in substance abuse, finding significant associations for two PTPRB polymorphisms with alcoholism vulnerability in unrelated European-American individuals .
Chronic prepubertal alcohol exposure decreases the synthesis of glial protein tyrosine phosphatase-[beta], which is required for binding to the neuronal components contactin
and contactin-associated protein-1.
(2) A complex of two axonal cell adhesion molecules, contactin
and contactin-associated protein (Caspr), and the glial 155 kDa isoform of neurofascin (NF155) are involved in the formation and maintenance of this junction.
The five genes include contactin
3 (CNTN3); Chaperonin Containing TCP1, Subunit 5 (CCT5); valyl-tRNA synthetase 2, mitochondrial (VARS2) and inositol polyphosphate-5-phosphatase J (INPP5J), Protein Phosphatase 4, Regulatory Subunit 2 (PPP4R2).
The other significant CpG was found in the contactin
associated protein-like 2 gene (CNTNAP2, cg25949550, p = 4.0 x [10.sup.-9]).
SNP loci identified by CTC were used to generate an exploratory 5-marker CNA gene panel: CUB and Sushi multiple domains 2 (CSMD2), 1p35.1; contactin
associated protein-like 5 (CNTNAP5), 2q14.3; NRDE-2, necessary for RNA interference, domain containing (NRDE2), 14q32.11; ADAM metallopeptidase domain 6, pseudogene (ADAM6), 14q32.33; and transient receptor potential cation channel, subfamily M, member 2 (TRPM2), 21q22.3, with the ability to differentiate melanoma patients with good and poor outcome.
CNTN-1 is a member of the contactin
subgroup of the immunoglobulin superfamily which participates in various signal transduction pathways .