Transcription Factors and Human Disorders

Abstract

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

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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 http://www.ncbi.nlm.nih.gov

Homeo box A13 (HOXA13); Locus ID: 3209. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3209

Homeo box D13 (HOXD13); Locus ID: 3239. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3239

Insulin promoter factor 1, homeodomain transcription factor (IPF1); Locus ID: 3651. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3651

msh homeo box homolog 2 (Drosophila) (MSX2); Locus ID: 4488. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4488

Paired box gene 3 (Waardenburg syndrome 1) (PAX3); Locus ID: 5077. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5077

Paired box gene 6 (aniridia, keratitis) (PAX6); Locus ID: 5080. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5080

Sex determining region Y (SRY); Locus ID: 6736. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6736

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

Wilms tumor 1(WT1); Locus ID: 7490. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7490

Homeo box A13 (HOXA13); MIM number: 142959. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?142959

Homeo box D13 (HOXD13); MIM number: 142989. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?142989

Insulin promoter factor 1, homeodomain transcription factor (IPF1); MIM number: 600733. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?600733

msh homeo box homolog 2 (Drosophila) (MSX2); MIM number: 123101. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?123101

Paired box gene 3 (Waardenburg syndrome 1) (PAX3); MIM number: 606597. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?606597

Paired box gene 3 (Waardenburg syndrome 1) (PAX3); MIM number: 606597. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?106210

Sex determining region Y (SRY); MIM number 480000. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?480000

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

Wilms tumor 1(WT1); MIM number: 194070. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐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. http://www.els.net [doi: 10.1038/npg.els.0005504]