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Pituitary-specific positive transcription factor 1

The POU1F1 gene encodes a transcription factor that is required for pituitary development and hormone expression. Mutations in this gene cause autosomal recessive combined pituitary hormone deficiency 1.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pituitary hormone deficiency type 1



Andersen B et al. (1995) The Ames dwarf gene is required for Pit-1 gene activation.

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Miyata I et al. (2006) Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

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Ohta K et al. (1992) Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1.

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Li S et al. (1990) Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1.

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Camper SA et al. (1990) The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutation.

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Castrillo JL et al. (1989) Purification of growth hormone-specific transcription factor GHF-1 containing homeobox.

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Bodner M et al. (1988) The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein.

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Ingraham HA et al. (1988) A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotype.

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Herr W et al. (1988) The POU domain: a large conserved region in the mammalian pit-1, oct-1, oct-2, and Caenorhabditis elegans unc-86 gene products.

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Delhase M et al. (1995) A novel pituitary transcription factor is produced by alternative splicing of the human GHF-1/PIT-1 gene.

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Rogol AD et al. (1976) Congenital hypothyroidism in a young man with growth hormone, thyrotropin, and prolactin deficiencies.

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Schanke JT et al. (1997) Pit-1/growth hormone factor 1 splice variant expression in the rhesus monkey pituitary gland and the rhesus and human placenta.

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Rodrigues Martineli AM et al. (1998) Description of a Brazilian patient bearing the R271W Pit-1 gene mutation.

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Rajas F et al. (1998) Nuclear factor 1 regulates the distal silencer of the human PIT1/GHF1 gene.

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Gaiddon C et al. (1999) The tissue-specific transcription factor Pit-1/GHF-1 binds to the c-fos serum response element and activates c-fos transcription.

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Scully KM et al. (2000) Allosteric effects of Pit-1 DNA sites on long-term repression in cell type specification.

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Flurkey K et al. (2001) Lifespan extension and delayed immune and collagen aging in mutant mice with defects in growth hormone production.

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Qi Y et al. (2008) Atbf1 is required for the Pit1 gene early activation.

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Skowronska-Krawczyk D et al. (2014) Required enhancer-matrin-3 network interactions for a homeodomain transcription program.

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Hashimoto Y et al. (2003) A novel nonsense mutation in the Pit-1 gene: evidence for a gene dosage effect.

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Dasen JS et al. (1999) Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types.

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Tatsumi K et al. (1992) Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.

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Ohta K et al. (1992) Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.

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Radovick S et al. (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.

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Pfäffle RW et al. (1992) Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.

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Wit JM et al. (1989) Total deficiency of growth hormone and prolactin, and partial deficiency of thyroid stimulating hormone in two Dutch families: a new variant of hereditary pituitary deficiency.

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McArthur RG et al. (1985) The natural history of familial hypopituitarism.

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McKusick VA et al. (1967) General Tom Thumb and other midgets.

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de Zegher F et al. (1995) The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency.

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Irie Y et al. (1995) A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency.

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Okamoto N et al. (1994) Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.

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Pellegrini-Bouiller I et al. (1996) A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.

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Aarskog D et al. (1997) Pituitary dwarfism in the R271W Pit-1 gene mutation.

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Pernasetti F et al. (1998) Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.

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Vallette-Kasic S et al. (2001) Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates.

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Hendriks-Stegeman BI et al. (2001) Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.

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Turton JP et al. (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

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Orphanet article

Orphanet ID 117948 external link

NCBI article

NCBI 5449 external link

OMIM.ORG article

Omim 173110 external link

Wikipedia article

Wikipedia EN (Pituitary-specific_positive_transcription_factor_1) external link
Update: Aug. 14, 2020
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