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Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia

Khamis, Amna, Palmen, Jutta, Lench, Nick, Taylor, Alison, Badmus, Ebele, Leigh, Sarah, Humphries, Steve E·2015·European Journal of Human Genetics
DOI 10.1038/ejhg.2014.199PMC PMC4277481
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  • Numerous mutations have been described in the LDLR promoter region that could impact SREBP-2 binding and LDLR transcriptional activation, leading to elevated cholesterol levels.

    “Numerous mutations have been described in the promotor region which could impact the ability of SREBP-2 to bind LDLR and activate transcription of the gene leading to elevated cholesterol levels35–38.”

    From Pathways and Molecular Mechanisms Governing LDL Receptor Regulation (2025) · cites this paper as [35]

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Research works printed but not linked: 35

  1. Marks D, Thorogood M, Neil HA, Humphries SE : A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003; 168: 1–14. · DOI
  2. Nordestgaard BG, Chapman MJ, Humphries SE et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34: 3478–90a. · DOI · Paper page
  3. Soutar AK, Naoumova RP : Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nature clinical practice. Cardiovasc Med 2007; 4: 214–225.
  4. Varret M, Abifadel M, Rabes JP, Boileau C : Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet 2008; 73: 1–13. · DOI
  5. Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE : Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet 2008; 72 (Pt 4): 485–498. · DOI
  6. Usifo E, Leigh SE, Whittall RA et al. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 2012; 76: 387–401. · DOI
  7. Liu J, Ahlborn TE, Briggs MR, Kraemer FB : Identification of a novel sterol-independent regulatory element in the human low density lipoprotein receptor promoter. J Biol Chem 2000; 275: 5214–5221. · DOI · Paper page
  8. Smith AJ, Ahmed F, Nair D et al. A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia. Eur J Hum Genet 2007; 15: 1186–1189. · DOI · Paper page
  9. Natesampillai S, Fernandez-Zapico ME, Urrutia R, Veldhuis JD : A novel functional interaction between the Sp1-like protein KLF13 and SREBP-Sp1 activation complex underlies regulation of low density lipoprotein receptor promoter function. J Biol Chem 2006; 281: 3040–3047. · DOI
  10. Francova H, Trbusek M, Zapletalova P, Kuhrova V : New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis. J Inherit Metab Dis 2004; 27: 523–528. · DOI
  11. Medeiros AM, Alves AC, Francisco V, Bourbon M : Update of the Portuguese Familial Hypercholesterolaemia Study. Atherosclerosis 2010; 212: 553–558. · DOI
  12. Taylor A, Wang D, Patel K et al. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Clin Genet 2010; 77: 572–580. · DOI
  13. Cartharius K, Frech K, Grote K et al. MatInspector and beyond: promoter analysis based on transcription factor binding sites. Bioinformatics 2005; 21: 2933–2942. · DOI
  14. Kel AE, Gossling E, Reuter I, Cheremushkin E, Kel-Margoulis OV, Wingender E : MATCH: a tool for searching transcription factor binding sites in DNA sequences. Nucleic Acids Res 2003; 31: 3576–3579. · DOI
  15. De Castro-Oros I, Pampin S, Bolado-Carrancio A et al. Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia. Hum Mutat 2011; 32: 868–872. · DOI · Paper page
  16. Yang WS, Nevin DN, Peng R, Brunzell JD, Deeb SS : A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc Natl Acad Sci USA 1995; 92: 4462–4466. · DOI
  17. Nakshatri H, Nakshatri P, Currie RA : Interaction of Oct-1 with TFIIB. Implications for a novel response elicited through the proximal octamer site of the lipoprotein lipase promoter. J Biol Chem 1995; 270: 19613–19623. · DOI
  18. Li H, Dong B, Park SW, Lee HS, Chen W, Liu J : Hepatocyte nuclear factor 1alpha plays a critical role in PCSK9 gene transcription and regulation by the natural hypocholesterolemic compound berberine. J Biol Chem 2009; 284: 28885–28895. · DOI
  19. Dhawan P, Chang R, Mehta KD : Identification of essential nucleotides of the FP1 element responsible for enhancement of low density lipoprotein receptor gene transcription. Nucleic Acids Res 1997; 25: 4132–4138. · DOI
  20. Scholtz CL, Peeters AV, Hoogendijk CF et al. Mutation -59c—>t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia. Hum Mol Genet 1999; 8: 2025–2030. · DOI · Paper page
  21. Bodamer OA, Bercovich D, Schlabach M, Ballantyne C, Zoch D, Beaudet AL : Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem 2002; 48: 1913–1918. · DOI
  22. Lind S, Rystedt E, Eriksson M, Wiklund O, Angelin B, Eggertsen G : Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene. Atherosclerosis 2002; 163: 399–407. · DOI
  23. Fouchier SW, Kastelein JJ, Defesche JC : Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat 2005; 26: 550–556. · DOI
  24. Peeters AV, Kotze MJ, Scholtz CL et al. A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi. J Lipid Res 1998; 39: 1021–1024. · DOI
  25. Dedoussis GV, Genschel J, Bochow B et al. Molecular characterization of familial hypercholesterolemia in German and Greek patients. Hum Mutat 2004; 23: 285–286. · DOI
  26. Francova H, Trbusek M, Zapletalova P, Kuhrova V : New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis. J Inherit Metab Dis 2004; 27: 523–528. · DOI
  27. Day IN, Whittall RA, O'Dell SD et al. Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. Hum Mutat 1997; 10: 116–127. · DOI
  28. Mozas P, Galetto R, Albajar M, Ros E, Pocovi M, Rodriguez-Rey JC : A mutation (-49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia. J Lipid Res 2002; 43: 13–18. · DOI
  29. Dedoussis GV, Pitsavos C, Kelberman D et al. FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia. Clin Genet 2003; 64: 414–419. · DOI
  30. Sun XM, Neuwirth C, Wade DP, Knight BL, Soutar AK : A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH). Hum Mol Genet 1995; 4: 2125–2129. · DOI
  31. Hobbs HH, Brown MS, Goldstein JL : Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992; 1: 445–466. · DOI · Paper page
  32. Koivisto UM, Palvimo JJ, Janne OA, Kontula K : A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia. Proc Natl Acad Sci USA 1994; 91: 10526–10530. · DOI
  33. Laurie AD, Scott RS, George PM : Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective. Atheroscler Suppl 2004; 5: 13–15. · DOI
  34. Mozas P, Castillo S, Tejedor D et al. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. Hum Mutat 2004; 24: 187. · DOI
  35. Sozen MM, Whittall R, Oner C et al. The molecular basis of familial hypercholesterolaemia in Turkish patients. Atherosclerosis 2005; 180: 63–71. · DOI

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Metadata

Authors
Khamis, A., Palmen, J., Lench, N., Taylor, A., Badmus, E., Leigh, S., & Humphries, S. E.
Venue
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2014-09-24
Volume
23
Issue
6
Pages
790-795
ISSN
  • 1018-4813
  • 1476-5438
DOI
10.1038/ejhg.2014.199
PMC
PMC4277481
Cited by
27
References
0
Language
en
Licence
creativecommons.org/licenses/by/3.0/ (tdm)

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