Promoter Haplotypes and Gene Expression

There is an estimated 0.1% difference between any two human genomes. The differences occur predominantly outside protein-coding regions and result in, for example, different promoter haplotypes. The generation of a high-resolution human genomic sequence will allow us to investigate the role of genetic variance in common diseases, which tend to be multifactorial with a non-Mendelian inheritance.

Keywords: polymorphism; genetics; disease; haplotype; transcription

 References
    Bergman A, Einbeigi Z, Olofsson U, et al. (2001) The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. European Journal of Human Genetics 9(10): 787–793.
    Busch CP and Hegele RA (2001) Genetic determinants of type 2 diabetes mellitus. Clinical Genetics 60: 243–254.
    Chiba-Falek O and Nussbaum RL (2001) Effect of allelic variation at the NACP-Rep1 repeat upstream of the -synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Human Molecular Genetics 10: 3101–3109.
    Goldfarb LG, Brown P, Mitrova E, et al. (1991) Creutzfeldt–Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families. European Journal of Epidemiology 7: 477–486.
    Joosten PH, Toepoel M, Mariman EC and Van Zoelen EJ (2001) Promoter haplotype combinations of the platelet-derived growth factor -receptor gene predispose to human neural tube defects. Nature Genetics 27: 215–217.
    Martinez de Villarreal LE, Delgado-Enciso I, Valdez Leal R, et al. (2001) Folate levels and N5,N10-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study. Archives of Medical Research 32: 277–282.
    Nakajima T, Jordi LB, Ishigami T, et al. (2002) Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations. American Journal of Human Genetics 70: 108–123.
    Nakao A (2001) Is TGF-1 the key to suppression of human asthma? Trends in Immunology 22: 115–118.
    Nerup J and Pociot F (2001) A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. American Journal of Human Genetics 69: 1301–1313.
    Strittmatter WJ, Saunders EM, Schmechel D, et al. (1993) Apolipoprotein E: high-avidity binding to -amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proceedings of the National Academy of Sciences of the United States of America 90: 1977–1981.
    Renner W, Koppel H, Hoffmann C, et al. (2000) Prothrombin G20210A, factor V Leiden, and factor XIII Val34Leu: common mutations of blood coagulation factors and deep vein thrombosis in Austria. Thrombosis Research 99: 35–39.
 Further Reading
    Akey J, Jin L and Xiong M (2001) Haplotypes vs single marker linkage disequilibrium tests: what do we gain?. European Journal of Human Genetics 9: 291–300.
    Akey JM, Zhang K, Xiong M, Doris P and Jin L (2001) The effect that genotyping errors have on the robustness of common linkage-disequilibrium measures. American Journal of Human Genetics 68: 1447–1456.
    Ambros V (2001) MicroRNAs: tiny regulators with great potential. Cell 107: 823–826.
    Judd BH (1988) Transvection: allelic cross talk. Cell 53: 841–843.
    Mattick JS (2001) Non-coding RNAs: the architects of eukaryotic complexity. EMBO Reports 2: 986–991.
    Miller RD and Kwok PY (2001) The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine. Human Molecular Genetics 10: 2195–2198.
    Morris JR, Geyer PK and Wu CT (1999) Core promoter elements can regulate transcription on a separate chromosome in trans. Genes and Development 13: 253–258.
    Service SK, Ophoff RA and Freimer NB (2001) The genome-wide distribution of background linkage disequilibrium in a population isolate. Human Molecular Genetics 10: 545–551.
    Taylor JG, Choi EH, Foster CB and Chanock SJ (2001) Using genetic variation to study human disease. Trends in Molecular Medicine 7: 507–512.
    Ten Asbroek AL, Olsen J, Housman D, Baas F and Stanton Jr V (2001) Genetic variation in mRNA coding sequences of highly conserved genes. Physiology and Genomics 5: 113–118.
 Web Links
    ePath National Center for Biotechnology Information. single nucleotide polymorphisms Database. NCBI supports the public redistribution of dbSNP by providing zip- compressed data dumps in four data formats http://www.ncbi.nlm.nih.gov/SNP/
Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Joosten, Paulus HLJ(Jan 2006) Promoter Haplotypes and Gene Expression. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005968]