M89V Sialic Acid Acetyl Esterase (SIAE) and All Other Non-Synonymous Common Variants of This Gene Are Catalytically Normal

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M89V Sialic Acid Acetyl Esterase (SIAE) and All Other Non-Synonymous Common Variants of This Gene Are Catalytically Normal

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Title: M89V Sialic Acid Acetyl Esterase (SIAE) and All Other Non-Synonymous Common Variants of This Gene Are Catalytically Normal
Author: Chellappa, Vasant; Pedrick, Kathryn; Donado, Carlos; Haider, Khaleda; Cariappa, Annaiah; Dalomba, Natasha F.; Taylor, Kendra N; Netravali, Ilka Arun; Pillai, Shiv Subramaniam

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Citation: Chellappa, Vasant, Kendra N. Taylor, Kathryn Pedrick, Carlos Donado, Ilka Arun Netravali, Khaleda Haider, Annaiah Cariappa, Natasha F. Dalomba, and Shiv Subramaniam Pillai. 2013. M89V Sialic acid acetyl esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal. PLoS ONE 8(1): e53453.
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Abstract: Catalytically defective rare variants of Sialic acid Acetyl Esterase (SIAE) have previously been linked to autoimmunity. Studies presented here confirm that the M89V SIAE protein and all other products of common variant alleles of SIAE are catalytically normal. Although overexpressing transfected non-lymphoid cells secrete small amounts of SIAE that can associate with the cell surface, normal human lymphocytes do not exhibit cell surface SIAE, supporting genetic evidence in mice that indicates that this protein functions in a lymphocyte intrinsic manner. Analyses of the plasma proteome also indicate that SIAE is not secreted in vivo. A re-analysis exclusively of catalytically defective rare variant alleles of SIAE in subjects in which this gene was completely sequenced confirmed an association of SIAE with autoimmunity. A subset of catalytically defective rare variant SIAE alleles has previously been typed in a large genotyping study comparing a diverse group of disease subjects and controls; our re-analysis of this data shows that catalytically defective alleles are enriched in disease subjects. These data suggest that SIAE may be associated with autoimmunity and that further study of catalytically defective rare variant SIAE alleles in terms of autoimmune disease susceptibility is strongly warranted.
Published Version: doi:10.1371/journal.pone.0053453
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538537/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:10612947
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