3' Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1.
3′ UTR
BONE
CYP24A1
RENAL
VITAMIN D
mRNA
Journal
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
ISSN: 1523-4681
Titre abrégé: J Bone Miner Res
Pays: United States
ID NLM: 8610640
Informations de publication
Date de publication:
03 2023
03 2023
Historique:
revised:
04
01
2023
received:
11
11
2022
accepted:
06
01
2023
pubmed:
11
1
2023
medline:
21
3
2023
entrez:
10
1
2023
Statut:
ppublish
Résumé
Loss-of-function mutations in the CYP24A1 protein-coding region causing reduced 25 hydroxyvitamin D (25OHD) and 1,25 dihydroxyvitamin D (1,25(OH)
Substances chimiques
3' Untranslated Regions
0
CYP24A1 protein, human
EC 1.14.15.16
Vitamin D
1406-16-2
Vitamin D3 24-Hydroxylase
EC 1.14.15.16
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
414-426Subventions
Organisme : Bone Cancer Research Trust
Organisme : Norwich Medical School PhD Programme
Organisme : The Michael Davie Research Foundation
Organisme : The Sir William Coxen Trust
Informations de copyright
© 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
Références
Fraser WD, Milan AM. Vitamin D assays: past and present debates, difficulties, and developments. Calcif Tissue Int. 2013;92(2):118-127.
Fraser WD, Tang JCY, Dutton JJ, Schoenmakers I. Vitamin D measurement, the debates continue, new analytes have emerged, developments have variable outcomes. Calcif Tissue Int. 2020;106(1):3-13.
Teshome A, Adane A, Girma B, Mekonnen ZA. The impact of vitamin D level on COVID-19 infection: systematic review and meta-analysis. Front Public Health. 2021;5(9):624559.
Tang JCY, Nicholls H, Piec I, et al. Reference intervals for serum 24,25-dihydroxyvitamin D and the ratio with 25-hydroxyvitamin D established using a newly developed LC-MS/MS method. J Nutr Biochem. 2017;1(46):21-29.
Schlingmann KP, Kaufmann M, Weber S, et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011;365(5):410-421.
Schoenmakers I, Piec I, Baban S, et al. Gestational hypercalcemia: prevalence and biochemical profile. J Steroid Biochem Mol Biol. 2020;1(199):105611.
Sharp PA. The centrality of RNA. Cell. 2009;136(4):577-580.
Pan T, Sosnick T. RNA folding during transcription. Annu Rev Biophys Biomol Struct. 2006;35(1):161-175.
Warf MB, Berglund JA. The role of RNA structure in regulating pre-mRNA splicing. Trends Biochem Sci. 2010;35(3):169-178.
Martin KC, Ephrussi A. mRNA localization: gene expression in the spatial dimension. Cell. 2009;136(4):719-730.
Kozak M. Regulation of translation via mRNA structure in prokaryotes and eukaryotes. Gene. 2005;21(361):13-37.
Garneau NL, Wilusz J, Wilusz CJ. The highways and byways of mRNA decay. Nat Rev Mol Cell Biol. 2007;8(2):113-126.
Tang J. Methods for the Measurement of Vitamin D Metabolites and Studies on their Relationships in Health and Disease. Norwich, UK: University of East Anglia; 2019.
Sayers J, Hynes A, Rice S, Hogg P, Sayer J. Searching for CYP24A1 mutations in cohorts of patients with calcium nephrolithiasis. 2013. doi:https://doi.org/10.13172/2053-0293-1-1-525. Available from: https://www.semanticscholar.org/paper/Searching-for-CYP24A1-mutations-in-cohorts-of-with-Sayers-Hynes/75416e174d0160bba5de89837e8506f29d6d038c#citing-papers
Gruber AR, Lorenz R, Bernhart SH, Neuböck R, Hofacker IL. The Vienna RNA websuite. Nucleic Acids Res. 2008;36:W70-W74.
Lorenz R, Bernhart SH, Höner zu Siederdissen C, et al. ViennaRNA Package 2.0. Algorithms Mol Biol. 2011;6(1):26.
Paz I, Kosti I, Ares M, Cline M, Mandel-Gutfreund Y. RBPmap: a web server for mapping binding sites of RNA-binding proteins. Nucleic Acids Res. 2014;42(W1):W361-W367.
Chen Y, Wang X. miRDB: an online database for prediction of functional microRNA targets. Nucleic Acids Res. 2020;48(D1):D127-D131.
Liu W, Wang X. Prediction of functional microRNA targets by integrative modeling of microRNA binding and target expression data. Genome Biol. 2019;20(1):18.
St D, Groth SF. The evaluation of limiting dilution assays. J Immunol Methods. 1982;49(2):R11-R23.
Bahry E, Breimann L, Zouinkhi M, et al. RS-FISH: precise, interactive, fast, and scalable FISH spot detection. Nat Methods. 2022;19:1563-1567.
Dauber A, Nguyen TT, Sochett E, et al. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab. 2012;97(2):268-274.
Molin A, Baudoin R, Kaufmann M, et al. CYP24A1 mutations in a cohort of hypercalcemic patients: evidence for a recessive trait. J Clin Endocrinol Metab. 2015;100(10):1343-1352.
Ainger K, Avossa D, Diana AS, Barry C, Barbarese E, Carson JH. Transport and localization elements in myelin basic protein mRNA. J Cell Biol. 1997;138(5):1077-1087.
An JJ, Gharami K, Liao GY, et al. Distinct role of long 3′ UTR BDNF mRNA in spine morphology and synaptic plasticity in hippocampal neurons. Cell. 2008;134(1):175-187.
Steri M, Idda ML, Whalen MB, Orrù V. Genetic variants in mRNA untranslated regions. Wiley Interdiscip Rev RNA. 2018;9(4):1474.
de Moor CH, Meijer H, Lissenden S. Mechanisms of translational control by the 3′ UTR in development and differentiation. Semin Cell Dev Biol. 2005;16(1):49-58.
Scheper GC, van der Knaap MS, Proud CG. Translation matters: protein synthesis defects in inherited disease. Nat Rev Genet. 2007;8(9):711-723.
Biever A, Glock C, Tushev G, et al. Monosomes actively translate synaptic mRNAs in neuronal processes. Science. 2020;367(6477):4991.
Vendramin R, Verheyden Y, Ishikawa H, et al. SAMMSON fosters cancer cell fitness by concertedly enhancing mitochondrial and cytosolic translation. Nat Struct Mol Biol. 2018;25(11):1035-1046.
St-Arnaud R. Targeted inactivation of vitamin D hydroxylases in mice. Bone. 1999;25(1):127-129.
Perez-Carrasco R, Beentjes C, Grima R. Effects of cell cycle variability on lineage and population measurements of messenger RNA abundance. J R Soc Interface. 2020;17(168):20200360.
Janes KA. Cell-to-cell transcript variability-seeing signal in the noise. Cell. 2015;163(7):1566-1568.
Rampersad S, Tennant P. Replication and expression strategies of viruses. Viruses. 2018:55-82. https://doi.org/10.1016/B978-0-12-811257-1.00003-6