Transcription Factors and Human Disorders


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


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

Latchman DS (ed.) (1999) Transcription Factors: A Practical Approach, 2nd edn. New York: Oxford University Press.

Papavassiliou AG (1997) Transcription Factors in Eukaryotes. Austin, TX: Landes Bioscience.

Semenza GL (1998) Transcription Factors and Human Disease. New York: Oxford University Press.

Web Links

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

Homeo box A13 (HOXA13); Locus ID: 3209. LocusLink:

Homeo box D13 (HOXD13); Locus ID: 3239. LocusLink:

Insulin promoter factor 1, homeodomain transcription factor (IPF1); Locus ID: 3651. LocusLink:

msh homeo box homolog 2 (Drosophila) (MSX2); Locus ID: 4488. LocusLink:

Paired box gene 3 (Waardenburg syndrome 1) (PAX3); Locus ID: 5077. LocusLink:

Paired box gene 6 (aniridia, keratitis) (PAX6); Locus ID: 5080. LocusLink:

Sex determining region Y (SRY); Locus ID: 6736. LocusLink:

SRY (sex determining region Y)‐box 9 (campomelic dysplasia, autosomal sex‐reversal) (SOX9); Locus ID: 6662. LocusLink:

Wilms tumor 1(WT1); Locus ID: 7490. LocusLink:

Homeo box A13 (HOXA13); MIM number: 142959. OMIM:‐post/Omim/dispmim?142959

Homeo box D13 (HOXD13); MIM number: 142989. OMIM:‐post/Omim/dispmim?142989

Insulin promoter factor 1, homeodomain transcription factor (IPF1); MIM number: 600733. OMIM:‐post/Omim/dispmim?600733

msh homeo box homolog 2 (Drosophila) (MSX2); MIM number: 123101. OMIM:‐post/Omim/dispmim?123101

Paired box gene 3 (Waardenburg syndrome 1) (PAX3); MIM number: 606597. OMIM:‐post/Omim/dispmim?606597

Paired box gene 3 (Waardenburg syndrome 1) (PAX3); MIM number: 606597. OMIM:‐post/Omim/dispmim?106210

Sex determining region Y (SRY); MIM number 480000. OMIM:‐post/Omim/dispmim?480000

SRY (sex determining region Y)‐box 9 (campomelic dysplasia, autosomal sex‐reversal) (SOX9); MIM number: 114290. OMIM:‐post/Omim/dispmim?114290

Wilms tumor 1(WT1); MIM number: 194070. OMIM:‐post/Omim/dispmim?194070

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Semenza, Gregg L(Jan 2006) Transcription Factors and Human Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005504]