Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hypophysenspezifischer Transkriptionsfaktor 1

Das POU1F1-Gen kodiert einen Transkriptionsfaktor, der für die normale Entwicklung der Hypophyse und die Synthese der Hormone verantwortlich zeichnet. Mutatonen verursachen die autosomal dominant oder rezessive Erkrankung Hyophysenhormonmangel Typ 1.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hyophysenhormonmangel Typ 1
POU1F1

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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10.

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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11.

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

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12.

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

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13.

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

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14.

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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15.

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

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16.

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

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17.

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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18.

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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19.

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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20.

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

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21.

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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22.

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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23.

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

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24.

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

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25.

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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26.

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

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27.

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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28.

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

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29.

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

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30.

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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31.

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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32.

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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33.

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

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34.

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

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35.

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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36.

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

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37.

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

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