<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Mitra, N.</style></author><author><style face="normal" font="default" size="100%">Banda, K.</style></author><author><style face="normal" font="default" size="100%">Altheide, T. K.</style></author><author><style face="normal" font="default" size="100%">Schaffer, L.</style></author><author><style face="normal" font="default" size="100%">Johnson-Pais, T. L.</style></author><author><style face="normal" font="default" size="100%">Beuten, J.</style></author><author><style face="normal" font="default" size="100%">Leach, R. J.</style></author><author><style face="normal" font="default" size="100%">Angata, T.</style></author><author><style face="normal" font="default" size="100%">Nissi M Varki</style></author><author><style face="normal" font="default" size="100%">Ajit Varki</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">SIGLEC12, a human-specific segregating (pseudo)gene, encodes a signaling molecule expressed in prostate carcinomas</style></title><secondary-title><style face="normal" font="default" size="100%">J Biol Chem</style></secondary-title><alt-title><style face="normal" font="default" size="100%">The Journal of biological chemistry</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">*Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Alleles</style></keyword><keyword><style  face="normal" font="default" size="100%">Amino Acid Substitution</style></keyword><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Line</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Frequency</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Lectins/*biosynthesis/genetics</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Membrane Proteins/*biosynthesis/genetics</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Missense</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Neoplasm Pr</style></keyword><keyword><style  face="normal" font="default" size="100%">Neoplastic</style></keyword><keyword><style  face="normal" font="default" size="100%">Nude</style></keyword><keyword><style  face="normal" font="default" size="100%">Tumor</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2011</style></year><pub-dates><date><style  face="normal" font="default" size="100%">Jul 1</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/21555517</style></url></web-urls></urls><number><style face="normal" font="default" size="100%">26</style></number><edition><style face="normal" font="default" size="100%">2011/05/11</style></edition><volume><style face="normal" font="default" size="100%">286</style></volume><pages><style face="normal" font="default" size="100%">23003-11</style></pages><isbn><style face="normal" font="default" size="100%">1083-351X (Electronic)00</style></isbn><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;The primate SIGLEC12 gene encodes one of the CD33-related Siglec family of signaling molecules in immune cells. We had previously reported that this gene harbors a human-specific missense mutation of the codon for an Arg residue required for sialic acid recognition. Here we show that this R122C mutation of the Siglec-XII protein is fixed in the human population, i.e. it occurred prior to the origin of modern humans. Additional mutations have since completely inactivated the SIGLEC12 gene in some but not all humans. The most common inactivating mutation with a global allele frequency of 58% is a single nucleotide frameshift that markedly shortens the open reading frame. Unlike other CD33-related Siglecs that are primarily found on immune cells, we found that Siglec-XII protein is expressed not only on some macrophages but also on various epithelial cell surfaces in humans and chimpanzees. We also found expression on certain human prostate epithelial carcinomas and carcinoma cell lines. This expression correlates with the presence of the nonframeshifted, intact SIGLEC12 allele. Although SIGLEC12 allele status did not predict prostate carcinoma incidence, restoration of expression in a prostate carcinoma cell line homozygous for the frameshift mutation induced altered regulation of several genes associated with carcinoma progression. These stably transfected Siglec-XII-expressing prostate cancer cells also showed enhanced growth in nude mice. Finally, monoclonal antibodies against the protein were internalized by Siglec-XII-expressing prostate carcinoma cells, allowing targeting of a toxin to such cells. Polymorphic expression of Siglec-XII in humans thus has implications for prostate cancer biology and therapeutics.&lt;/p&gt;</style></abstract><work-type><style face="normal" font="default" size="100%">Research Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov&#039;t</style></work-type><notes><style face="normal" font="default" size="100%">&lt;p&gt;&lt;span role=&quot;menubar&quot;&gt;J Biol Chem.&lt;/span&gt;&amp;nbsp;2011 Jul 1;286(26):23003-11. doi: 10.1074/jbc.M111.244152. Epub 2011 May 9.&amp;nbsp;&lt;/p&gt;</style></notes><custom2><style face="normal" font="default" size="100%">3123068</style></custom2><auth-address><style face="normal" font="default" size="100%">Glycobiology Research and Training Center, Department of Medicine, University of California at San Diego, La Jolla, California 92093, USA.</style></auth-address></record></records></xml>