Transcription Factors and Human Disorders

Gregg L Semenza, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

Published online: January 2006

DOI: 10.1038/npg.els.0005504

Transcription factors play a major role in the regulation of gene expression which underlies human development, physiology and pathophysiology. Germ-line mutations in genes encoding transcription factors are responsible for a large number of congenital malformation syndromes. Somatic mutations in these genes also play important roles in the pathogenesis of cancer.

Keywords: cancer; congenital malformations; DNA-binding proteins

 References
    Capel B (1998) Sex in the 90s: SRY and the switch to the male pathway. Annual Reviews of Physiology 60: 497–523.
    Cillo C, Faiella A, Cantile M and Boncinelli E (1999) Homeo-box genes and cancer. Experimental Cell Research 248: 1–9.
    Gehring WJ and Ikeo K (1999) Pax 6: mastering eye morphogenesis and eye evolution. Trends in Genetics 15: 371–377.
    Grosschedl R, Giese K and Pagel J (1994) HMG domain proteins: architectural elements in the assembly of nucleoprotein structures. Trends in Genetics 10: 94–100.
    Kamachi Y, Uchikawa M and Kondoh H (2000) Pairing SOX off: with partners in the regulation of embryonic development. Trends in Genetics 16: 182–187.
    Kornberg RD and Lorch Y (1999) Twenty five years of the nucleosome, fundamental particle of the eukaryote chromosome. Cell 98: 285–294.
    Lemon B and Tjian R (2000) Orchestrated response: a symphony of transcription factors for gene control. Genes in Development 14: 2551–2569.
    Mansouri A (1998) The role of Pax3 and Pax7 in development and cancer. Critical Reviews in Oncology 9: 141–149.
    Veraksa A, Del Campo M and McGinnis W (2000) Developmental patterning genes and their conserved functions: from model organisms to humans. Molecular Genetics and Metabolism 69: 85–100.
    Wolfe SA, Nekludova L and Pabo CO (2000) DNA recognition by Cys2His2 zinc finger proteins. Annual Reviews of Biophysics and Biomolecular Structure 29: 183–212.
 Further Reading
    book Latchman DS (ed.) (1999) Transcription Factors: A Practical Approach, 2nd edn. New York: Oxford University Press.
    book Papavassiliou AG (1997) Transcription Factors in Eukaryotes. Austin, TX: Landes Bioscience.
    book Semenza GL (1998) Transcription Factors and Human Disease. New York: Oxford University Press.
 Web Links
    ePath Online Mendelian Inheritance in Man. A detailed description of all the diseases and genes listed in the tables can be found on this website. Links for some important genes mentioned in the text are specified below http://www.ncbi.nlm.nih.gov
    ePath Homeo box A13 (HOXA13); Locus ID: 3209. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3209
    ePath Homeo box D13 (HOXD13); Locus ID: 3239. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3239
    ePath Insulin promoter factor 1, homeodomain transcription factor (IPF1); Locus ID: 3651. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3651
    ePath msh homeo box homolog 2 (Drosophila) (MSX2); Locus ID: 4488. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4488
    ePath Paired box gene 3 (Waardenburg syndrome 1) (PAX3); Locus ID: 5077. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5077
    ePath Paired box gene 6 (aniridia, keratitis) (PAX6); Locus ID: 5080. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5080
    ePath Sex determining region Y (SRY); Locus ID: 6736. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6736
    ePath SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) (SOX9); Locus ID: 6662. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6662
    ePath Wilms tumor 1(WT1); Locus ID: 7490. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7490
    ePath Homeo box A13 (HOXA13); MIM number: 142959. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?142959
    ePath Homeo box D13 (HOXD13); MIM number: 142989. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?142989
    ePath Insulin promoter factor 1, homeodomain transcription factor (IPF1); MIM number: 600733. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600733
    ePath msh homeo box homolog 2 (Drosophila) (MSX2); MIM number: 123101. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?123101
    ePath Paired box gene 3 (Waardenburg syndrome 1) (PAX3); MIM number: 606597. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?606597
    ePath Paired box gene 3 (Waardenburg syndrome 1) (PAX3); MIM number: 606597. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?106210
    ePath Sex determining region Y (SRY); MIM number 480000. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?480000
    ePath SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) (SOX9); MIM number: 114290. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?114290
    ePath Wilms tumor 1(WT1); MIM number: 194070. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?194070

Related Sub-Topics:

Genes, Molecules and Cellular Processes | Developmental Disorders | Molecular Genetics of Common and Complex Disease | Specific Genetic Disorders | Quantitative Genetics | Transcriptional Regulation
Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

Article Title: Transcription Factors and Human Disorders
 
How to Cite close
Semenza, Gregg L(Jan 2006) Transcription Factors and Human Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005504]