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Related Experiment Videos

A mouse model for hereditary thyroid dysgenesis and cleft palate

M De Felice1, C Ovitt, E Biffali

  • 1Stazione Zoologica Anton Dohrn, Napoli, Italy.

Nature Genetics
|August 11, 1998
PubMed
Summary

Thyroid dysgenesis, a common cause of congenital hypothyroidism, may be linked to the TTF-2 gene. TTF-2 (titf2) is crucial for thyroid development, and its mutation causes thyroid absence or malformation in mice.

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Area of Science:

  • Developmental Biology
  • Genetics
  • Endocrinology

Background:

  • Thyroid dysgenesis is a frequent cause of congenital hypothyroidism, often presenting as ectopic or absent thyroid tissue.
  • While often sporadic, familial cases suggest a genetic basis for thyroid developmental defects.
  • The transcription factor TTF-2 (titf2) is expressed during thyroid development, implicating it in morphogenesis.

Purpose of the Study:

  • To investigate the role of the transcription factor TTF-2 (titf2) in thyroid gland morphogenesis.
  • To determine if mutations in Titf2 cause thyroid dysgenesis and neonatal hypothyroidism.

Main Methods:

  • Cloning of cDNA encoding the forkhead domain transcription factor TTF-2.
  • Localization of the mouse Titf2 gene to chromosome 4.

Related Experiment Videos

  • Generation and analysis of Titf2-null mutant mice.

    • Main Results:

    • Titf2 is expressed in developing thyroid precursors and its expression decreases as migration ceases.
    • Titf2-null mutant mice display cleft palate and either a sublingual or absent thyroid gland.
    • These phenotypes in mutant mice mimic human thyroid dysgenesis and result in neonatal hypothyroidism.

    Conclusions:

    • The TTF-2 (titf2) gene plays a critical role in mammalian thyroid gland morphogenesis.
    • Loss of Titf2 function leads to thyroid dysgenesis and congenital hypothyroidism, similar to human conditions.
    • Further research into Titf2 function may elucidate the genetic basis of human thyroid developmental disorders.