Thyroid transcription factor-1 (TTF-1/Nkx2.1/TITF1) gene regulation in the lung

Clin Sci (Lond). 2009 Jan;116(1):27-35. doi: 10.1042/CS20080068.

Abstract

TTF-1 [thyroid transcription factor-1; also known as Nkx2.1, T/EBP (thyroid-specific-enhancer-binding protein) or TITF1] is a homeodomain-containing transcription factor essential for the morphogenesis and differentiation of the thyroid, lung and ventral forebrain. TTF-1 controls the expression of select genes in the thyroid, lung and the central nervous system. In the lung, TTF-1 controls the expression of surfactant proteins that are essential for lung stability and lung host defence. Human TTF-1 is encoded by a single gene located on chromosome 14 and is organized into two/three exons and one/two introns. Multiple transcription start sites and alternative splicing produce mRNAs with heterogeneity at the 5' end. The 3' end of the TTF-1 mRNA is characterized by a rather long untranslated region. The amino acid sequences of TTF-1 from human, rat, mouse and other species are very similar, indicating a high degree of sequence conservation. TTF-1 promoter activity is maintained by the combinatorial or co-operative actions of HNF-3 [hepatocyte nuclear factor-3; also known as FOXA (forkhead box A)], Sp (specificity protein) 1, Sp3, GATA-6 and HOXB3 (homeobox B3) transcription factors. There is limited information on the regulation of TTF-1 gene expression by hormones, cytokines and other biological agents. Glucocorticoids, cAMP and TGF-beta (transforming growth factor-beta) have stimulatory effects on TTF-1 expression, whereas TNF-alpha (tumour necrosis factor-alpha) and ceramide have inhibitory effects on TTF-1 DNA-binding activity in lung cells. Haplo-insufficiency of TTF-1 in humans causes hypothyroidism, respiratory dysfunction and recurring pulmonary infections, underlining the importance of optimal TTF-1 levels for the maintenance of thyroid and lung function. Recent studies have implicated TTF-1 as a lineage-specific proto-oncogene for lung cancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Gene Expression Regulation*
  • Humans
  • Lung / metabolism*
  • Lung Neoplasms / genetics
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Oncogenes
  • Promoter Regions, Genetic / genetics
  • Proto-Oncogene Mas
  • Thyroid Nuclear Factor 1
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • MAS1 protein, human
  • NKX2-1 protein, human
  • Nkx2-1 protein, mouse
  • Nuclear Proteins
  • Proto-Oncogene Mas
  • Thyroid Nuclear Factor 1
  • Transcription Factors