Genetics and pathophysiology of mammalian sulfate biology

Langford, Rachel, Hurrion, Elizabeth and Dawson, Paul A. (2017) Genetics and pathophysiology of mammalian sulfate biology. Journal of Genetics and Genomics, 44 1: 7-20. doi:10.1016/j.jgg.2016.08.001

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Author Langford, Rachel
Hurrion, Elizabeth
Dawson, Paul A.
Title Genetics and pathophysiology of mammalian sulfate biology
Journal name Journal of Genetics and Genomics   Check publisher's open access policy
ISSN 1873-5533
1673-8527
Publication date 2017-01-20
Year available 2016
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1016/j.jgg.2016.08.001
Open Access Status File (Author Post-print)
Volume 44
Issue 1
Start page 7
End page 20
Total pages 14
Place of publication Amsterdam, Netherlands
Publisher Elsevier BV
Collection year 2018
Language eng
Abstract Nutrient sulfate is essential for numerous physiological functions in mammalian growth and development. Accordingly, disruptions to any of the molecular processes that maintain the required biological ratio of sulfonated and unconjugated substrates are likely to have detrimental consequences for mammalian physiology. Molecular processes of sulfate biology can be broadly grouped into four categories: firstly, intracellular sulfate levels are maintained by intermediary metabolism and sulfate transporters that mediate the transfer of sulfate across the plasma membrane; secondly, sulfate is converted to 3′-phosphoadenosine 5′-phosphosulfate (PAPS), which is the universal sulfonate donor for all sulfonation reactions; thirdly, sulfotransferases mediate the intracellular sulfonation of endogenous and exogenous substrates; fourthly, sulfate is removed from substrates via sulfatases. From the literature, we curated 91 human genes that encode all known sulfate transporters, enzymes in pathways of sulfate generation, PAPS synthetases and transporters, sulfotransferases and sulfatases, with a focus on genes that are linked to human and animal pathophysiology. The predominant clinical features linked to these genes include neurological dysfunction, skeletal dysplasias, reduced fecundity and reproduction, and cardiovascular pathologies. Collectively, this review provides reference information for genetic investigations of perturbed mammalian sulfate biology.
Keyword PAPS
Pathogenetics
Sulfatase
Sulfate
Sulfotransferase
Transport
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Mater Research Institute-UQ (MRI-UQ)
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