Skip to main content

Advertisement

Log in

Genetic variation in human gene expression

  • Published:
Mammalian Genome Aims and scope Submit manuscript

Abstract

Gene expression variation has been the focus of many studies in the past few years. The relevance of gene regulation and gene expression to disease and the development of the technologies used to screen large numbers of genes simultaneously have allowed this rapid development. In this review we discuss issues relating to the biological information one obtains from such studies and the biological significance and use of signals from mapping of gene expression variation.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  • Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, et al. (2005) A haplotype map of the human genome. Nature 437: 1299–1320

    Article  Google Scholar 

  • Barnes M, Freudenberg J, Thompson S, Aronow B, Pavlidis P (2005) Experimental comparison and cross-validation of the Affymetrix and Illumina gene expression analysis platforms. Nucleic Acids Res 33: 5914–5923

    Article  CAS  Google Scholar 

  • Beavis WD (1998) QTL Analysis: power, precision, and accuracy. In Molecular Dissection of Complex Traits, Paterson AH (ed.) (New York: CRC Press), pp 145– 162

    Google Scholar 

  • Brem RB, Yvert G, Clinton R, Kruglyak L (2002) Genetic dissection of transcriptional regulation in budding yeast. Science 296: 52–755

    CAS  Google Scholar 

  • Cheung VG, Conlin LK, Weber TM, Arcaro M, Jen KY, et al. (2003a) Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet 33: 22–425

    Article  CAS  Google Scholar 

  • Cheung VG, Jen KY, Weber T, Morley M, Devlin JL, et al. (2003b) Genetics of quantitative variation in human gene expression. Cold Spring Harbor Symp Quant Biol 68:403–407

    Article  CAS  Google Scholar 

  • Cheung VG, Spielman RS, Ewens KG, Weber TM, Morley M, et al. (2005) Mapping determinants of human gene expression by regional and genome-wide association. Nature 437: 365–1369

    Article  CAS  Google Scholar 

  • Churchill GA, Doerge RW (1994) Empirical threshold values for quantitative trait mapping. Genetics 138: 63–971

    Article  CAS  Google Scholar 

  • Darvasi A (2003) Genomics: Gene expression meets genetics. Nature 422: 269–270

    Article  CAS  Google Scholar 

  • Dermitzakis ET, Reymond A, Lyle R, Scamuffa N, Ucla C, et al. (2002) Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature 420: 578–582

    Article  CAS  Google Scholar 

  • Deutsch S, Lyle R, Dermitzakis ET, Attar H, Subrahmanyan L, et al. (2005) Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes. Hum Mol Genet 14: 3741–3749

    Article  CAS  Google Scholar 

  • ENCODE Consortium (2004) The ENCODE (ENCyclopedia of DNA Elements) Project. Science 306: 636-640

    Article  Google Scholar 

  • Ge B, Gurd S, Gaudin T, Dore C, Lepage P, et al. (2005) Survey of allelic expression using EST mining. Genome Res 15: 1584–1591

    Article  CAS  Google Scholar 

  • Gibson G, Weir B (2005) The quantitative genetics of transcription. Trends Genet 21: 616–623

    Article  CAS  Google Scholar 

  • Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al. (2004) Detection of large-scale variation in the human genome. Nat Genet 36: 949–951

    Article  CAS  Google Scholar 

  • Khambata-Ford S, Liu Y, Gleason C, Dickson M, Altman RB, et al. (2003) Identification of promoter regions in the human genome by using a retroviral plasmid library-based functional reporter gene assay. Genome Res 13: 1765–1774

    Article  CAS  Google Scholar 

  • Lo HS, Wang Z, Hu Y, Yang HH, Gere S, et al. (2003) Allelic variation in gene expression is common in the human genome. Genome Res 13: 1855–1862

    Article  CAS  Google Scholar 

  • McCarroll SA, Hadnott TN, Perry GH, Sabetti PC, Zody MC, et al. (2006) International HapMap Consortium. Common deletion polymorphisms in the human genome. Nat Genet 38(1), 86–92

    Article  CAS  Google Scholar 

  • Monks SA, Leonardson A, Zhu H, Cundiff P, Pietrusiak P, et al. (2004) Genetic inheritance of gene expression in human cell lines. Am J Hum Genet 75: 1094–1105

    Article  CAS  Google Scholar 

  • Morley M, Molony CM, Weber TM, Devlin JL, Ewens KG, et al. (2004) Genetic analysis of genome-wide variation in human gene expression. Nature 430: 743–747

    Article  CAS  Google Scholar 

  • Pastinen T, Hudson TJ (2004) Cis-acting regulatory variation in the human genome. Science 306: 647–650

    Article  CAS  Google Scholar 

  • Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, et al. (2004) A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics 16: 184–193

    Article  CAS  Google Scholar 

  • Risch N, Merikangas K (1996) The future of genetic studies of complex human diseases. Science 273: 1516–1517

    Article  CAS  Google Scholar 

  • Sabo PJ, Humbert R, Hawrylycz M, Wallace JC, Dorschner MO, et al. (2004) Genome-wide identification of DNaseI hypersensitive sites using active chromatin sequence libraries. Proc Natl Acad Sci U S A 101: 4537–4542

    Article  CAS  Google Scholar 

  • Schadt EE, Monks SA, Drake TA, Lusis AJ, Che N, et al. (2003) Genetics of gene expression surveyed in maize, mouse and man. Nature 422: 297–302

    Article  CAS  Google Scholar 

  • Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305: 525–528

    Article  CAS  Google Scholar 

  • Stamatoyannopoulos JA (2004) The genomics of gene expression. Genomics 84: 449–457

    Article  CAS  Google Scholar 

  • Storey JD, Tibshirani R (2003) Statistical significance for genomewide studies. Proc Natl Acad Sci USA 100: 9440–9445

    Article  CAS  Google Scholar 

  • Stranger BE, Dermitzakis ET (2005) The genetics of regulatory variation in the human genome. Hum Genomics 2: 126–131

    Article  CAS  Google Scholar 

  • Stranger BE, Forrest MS, Clark AG, Minichiello MJ, Deutsch S, et al. (2005) Genome-wide associations of gene expression variation in humans. PLoS Genet 1: e78

    Article  Google Scholar 

  • Yan H, Yuan W, Velculescu VE, Vogelstein B, Kinzler KW (2002) Allelic variation in human gene expression. Science 297: 1143

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Emmanouil T. Dermitzakis.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Dermitzakis, E.T., Stranger, B.E. Genetic variation in human gene expression. Mamm Genome 17, 503–508 (2006). https://doi.org/10.1007/s00335-006-0005-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00335-006-0005-y

Keywords

Navigation