Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/78823
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Type: Journal article
Title: Widespread divergence of the CEACAM/PSG genes in vertebrates and humans suggests sensitivity to selection
Author: Chang, C.
Semyonov, J.
Cheng, P.
Huang, S.
Park, J.
Tsai, H.
Lin, C.
Grutzner, F.
Soong, Y.
Hsu, S.
Citation: PLoS One, 2013; 8(4):1-13
Publisher: Public Library of Science
Issue Date: 2013
ISSN: 1932-6203
1932-6203
Statement of
Responsibility: 
Chia Lin Chang, Jenia Semyonov, Po Jen Cheng, Shang Yu Huang, Jae Il Park, Huai-Jen Tsai, Cheng-Yung Lin, Frank Grützner, Yung Kuei Soong, James J. Cai, Sheau Yu Teddy Hsu
Abstract: In mammals, carcinoembryonic antigen cell adhesion molecules (CEACAMs) and pregnancy-specific glycoproteins (PSGs) play important roles in the regulation of pathogen transmission, tumorigenesis, insulin signaling turnover, and fetal–maternal interactions. However, how these genes evolved and to what extent they diverged in humans remain to be investigated specifically. Based on syntenic mapping of chordate genomes, we reveal that diverging homologs with a prototypic CEACAM architecture–including an extracellular domain with immunoglobulin variable and constant domain-like regions, and an intracellular domain containing ITAM motif–are present from cartilaginous fish to humans, but are absent in sea lamprey, cephalochordate or urochordate. Interestingly, the CEACAM/PSG gene inventory underwent radical divergence in various vertebrate lineages: from zero in avian species to dozens in therian mammals. In addition, analyses of genetic variations in human populations showed the presence of various types of copy number variations (CNVs) at the CEACAM/PSG locus. These copy number polymorphisms have 3–80% frequency in select populations, and encompass single to more than six PSG genes. Furthermore, we found that CEACAM/PSG genes contain a significantly higher density of nonsynonymous single nucleotide polymorphism (SNP) compared to the chromosome average, and many CEACAM/PSG SNPs exhibit high population differentiation. Taken together, our study suggested that CEACAM/PSG genes have had a more dynamic evolutionary history in vertebrates than previously thought. Given that CEACAM/PSGs play important roles in maternal–fetal interaction and pathogen recognition, these data have laid the groundwork for future analysis of adaptive CEACAM/PSG genotype-phenotypic relationships in normal and complicated pregnancies as well as other etiologies.
Keywords: Animals; Vertebrates; Humans; Cell Adhesion Molecules; Pregnancy Proteins; Antigens, CD; Evolution, Molecular; Polymorphism, Single Nucleotide; Selection, Genetic
Rights: © 2013 Chang et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
RMID: 0020128336
DOI: 10.1371/journal.pone.0061701
Grant ID: http://purl.org/au-research/grants/arc/DP0664267
Appears in Collections:Molecular and Biomedical Science publications
Environment Institute Leaders publications

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