Gene Review:
POU1F1 - POU class 1 homeobox 1
Homo sapiens
Synonyms:
CPHD1, GHF-1, GHF1, Growth hormone factor 1, PIT-1, ...
Tatsumi,
Miyai,
Amino,
Cohen,
Zanger,
Brue,
Wondisford,
Radovick,
Miyata,
Vallette-Kasic,
Saveanu,
Takeuchi,
Yoshikawa,
Tajima,
Tojo,
Reynaud,
Gueydan,
Enjalbert,
Tajima,
Eto,
Brue,
Parks,
Brown,
Hurley,
Phelps,
Wajnrajch,
Delhase,
Castrillo,
de la Hoya,
Rajas,
Hooghe-Peters,
Parks,
Brown,
Barlier,
Pellegrini-Bouiller,
Gunz,
Zamora,
Jaquet,
Enjalbert,
- Prop-1 gene expression in human pituitary tumors. Nakamura, S., Ohtsuru, A., Takamura, N., Kitange, G., Tokunaga, Y., Yasunaga, A., Shibata, S., Yamashita, S. J. Clin. Endocrinol. Metab. (1999)
- Transcription factors regulating pituitary development. Parks, J.S., Brown, M.R. Growth Horm. IGF Res. (1999)
- Description of a Brazilian patient bearing the R271W Pit-1 gene mutation. Rodrigues Martineli, A.M., Braga, M., De Lacerda, L., Raskin, S., Graf, H. Thyroid (1998)
- Induction of GH, PRL, and TSH beta mRNA by transfection of Pit-1 in a human pituitary adenoma-derived cell line. Miyai, S., Yoshimura, S., Iwasaki, Y., Takekoshi, S., Lloyd, R.V., Osamura, R.Y. Cell Tissue Res. (2005)
- Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene. Tatsumi, K., Miyai, K., Amino, N. Clin. Chem. Lab. Med. (1998)
- Positive association between POU1F1 and mental retardation in young females in the Chinese Han population. Sun, Y., Zhang, F., Gao, J., Gao, X., Guo, T., Zhang, K., Shi, Y., Zheng, Z., Tang, W., Zheng, Y., Li, S., Li, X., Feng, G., Shen, X., He, L. Hum. Mol. Genet. (2006)
- Mutations in PROP1 cause familial combined pituitary hormone deficiency. Wu, W., Cogan, J.D., Pfäffle, R.W., Dasen, J.S., Frisch, H., O'Connell, S.M., Flynn, S.E., Brown, M.R., Mullis, P.E., Parks, J.S., Phillips, J.A., Rosenfeld, M.G. Nat. Genet. (1998)
- Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Tatsumi, K., Miyai, K., Notomi, T., Kaibe, K., Amino, N., Mizuno, Y., Kohno, H. Nat. Genet. (1992)
- The POU-specific domain of Pit-1 is essential for sequence-specific, high affinity DNA binding and DNA-dependent Pit-1-Pit-1 interactions. Ingraham, H.A., Flynn, S.E., Voss, J.W., Albert, V.R., Kapiloff, M.S., Wilson, L., Rosenfeld, M.G. Cell (1990)
- A pituitary-specific trans-acting factor can stimulate transcription from the growth hormone promoter in extracts of nonexpressing cells. Bodner, M., Karin, M. Cell (1987)
- Impact of gsp oncogene on the expression of genes coding for Gsalpha, Pit-1, Gi2alpha, and somatostatin receptor 2 in human somatotroph adenomas: involvement in octreotide sensitivity. Barlier, A., Pellegrini-Bouiller, I., Gunz, G., Zamora, A.J., Jaquet, P., Enjalbert, A. J. Clin. Endocrinol. Metab. (1999)
- Expression of Pit-1 mRNA and activin/inhibin subunits in clinically nonfunctioning pituitary adenomas. In situ hybridization and immunohistochemical analysis. Sanno, N., Teramoto, A., Sugiyama, M., Matsuno, A., Takumi, I., Tahara, S., Osamura, R.Y. Horm. Res. (1998)
- Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. Turton, J.P., Reynaud, R., Mehta, A., Torpiano, J., Saveanu, A., Woods, K.S., Tiulpakov, A., Zdravkovic, V., Hamilton, J., Attard-Montalto, S., Parascandalo, R., Vella, C., Clayton, P.E., Shalet, S., Barton, J., Brue, T., Dattani, M.T. J. Clin. Endocrinol. Metab. (2005)
- Identification and Functional Analysis of the Novel S179R POU1F1 Mutation Associated with Combined Pituitary Hormone Deficiency. Miyata, I., Vallette-Kasic, S., Saveanu, A., Takeuchi, M., Yoshikawa, H., Tajima, A., Tojo, K., Reynaud, R., Gueydan, M., Enjalbert, A., Tajima, N., Eto, Y., Brue, T. J. Clin. Endocrinol. Metab. (2006)
- Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene. Hendriks-Stegeman, B.I., Augustijn, K.D., Bakker, B., Holthuizen, P., van der Vliet, P.C., Jansen, M. J. Clin. Endocrinol. Metab. (2001)
- The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient. Malvagia, S., Poggi, G.M., Pasquini, E., Donati, M.A., Pela, I., Morrone, A., Zammarchi, E. Pediatr. Res. (2003)
- Structure and regulation of the human growth hormone-releasing hormone receptor gene. Petersenn, S., Rasch, A.C., Heyens, M., Schulte, H.M. Mol. Endocrinol. (1998)
- Regulation of prolactin, GH, and Pit-1 gene expression in anterior pituitary by Pitx2: An approach using Pitx2 mutants. Quentien, M.H., Pitoia, F., Gunz, G., Guillet, M.P., Enjalbert, A., Pellegrini, I. Endocrinology (2002)
- The transcription factor Pit-1/GHF-1 is expressed in hemopoietic and lymphoid tissues. Delhase, M., Vergani, P., Malur, A., Hooghe-Peters, E.L., Hooghe, R.J. Eur. J. Immunol. (1993)
- The pituitary-specific regulatory gene GHF1 contains a minimal cell type-specific promoter centered around its TATA box. McCormick, A., Brady, H., Fukushima, J., Karin, M. Genes Dev. (1991)
- Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. Brown, M.R., Parks, J.S., Adess, M.E., Rich, B.H., Rosenthal, I.M., Voss, T.C., VanderHeyden, T.C., Hurley, D.L. Horm. Res. (1998)
- Defective retinoic acid regulation of the Pit-1 gene enhancer: a novel mechanism of combined pituitary hormone deficiency. Cohen, L.E., Zanger, K., Brue, T., Wondisford, F.E., Radovick, S. Mol. Endocrinol. (1999)
- A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. Pellegrini-Bouiller, I., Bélicar, P., Barlier, A., Gunz, G., Charvet, J.P., Jaquet, P., Brue, T., Vialettes, B., Enjalbert, A. J. Clin. Endocrinol. Metab. (1996)
- Induction of human growth hormone promoter activity by the adenosine 3',5'-monophosphate pathway involves a novel responsive element. Dana, S., Karin, M. Mol. Endocrinol. (1989)
- Expression of pit-1 messenger ribonucleic acid and protein in the human placenta. Bamberger, A.M., Bamberger, C.M., Pu, L.P., Puy, L.A., Loh, Y.P., Asa, S.L. J. Clin. Endocrinol. Metab. (1995)
- Pit-1/GHF-1 binds to TRH-sensitive regions of the rat thyrotropin beta gene. Mason, M.E., Friend, K.E., Copper, J., Shupnik, M.A. Biochemistry (1993)
- AP-1 and Oct-1 transcription factors down-regulate the expression of the human PIT1/GHF1 gene. Delhase, M., Castrillo, J.L., de la Hoya, M., Rajas, F., Hooghe-Peters, E.L. J. Biol. Chem. (1996)
- Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. Machinis, K., Amselem, S. J. Clin. Endocrinol. Metab. (2005)
- An AP-1-like factor and the pituitary-specific factor Pit-1 are both necessary to mediate hormonal induction of human thyrotropin beta gene expression. Kim, M.K., McClaskey, J.H., Bodenner, D.L., Weintraub, B.D. J. Biol. Chem. (1993)
- Pituitary specific transcription factor messenger ribonucleic expression in adenomatous and nontumorous human pituitary tissues. Lloyd, R.V., Jin, L., Chandler, W.F., Horvath, E., Stefaneanu, L., Kovacs, K. Lab. Invest. (1993)
- Both pituitary and placental growth hormone transcripts are expressed in human peripheral blood mononuclear cells (PBMC). Melen, L., Hennen, G., Dullaart, R.P., Heinen, E., Igout, A. Clin. Exp. Immunol. (1997)
- Sp1 and thyroid hormone receptor differentially activate expression of human growth hormone and chorionic somatomammotropin genes. Tansey, W.P., Catanzaro, D.F. J. Biol. Chem. (1991)
- Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes. Osorio, M.G., Marui, S., Jorge, A.A., Latronico, A.C., Lo, L.S., Leite, C.C., Estefan, V., Mendonca, B.B., Arnhold, I.J. J. Clin. Endocrinol. Metab. (2002)
- Heritable disorders of pituitary development. Parks, J.S., Brown, M.R., Hurley, D.L., Phelps, C.J., Wajnrajch, M.P. J. Clin. Endocrinol. Metab. (1999)
- A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency. Irie, Y., Tatsumi, K., Ogawa, M., Kamijo, T., Preeyasombat, C., Suprasongsin, C., Amino, N. Endocr. J. (1995)
- Screening for PIT1 abnormality by PCR direct sequencing method. Irie, Y., Tatsumi, K., Kusuda, S., Kawawaki, H., Boyages, S.C., Nose, O., Ichiba, Y., Katsumata, N., Amino, N. Thyroid (1995)
- Cloning and characterization of the 5'-flanking region of the human growth hormone-releasing hormone receptor gene. Iguchi, G., Okimura, Y., Takahashi, T., Mizuno, I., Fumoto, M., Takahashi, Y., Kaji, H., Abe, H., Chihara, K. J. Biol. Chem. (1999)
- A growth hormone-releasing hormone-producing pancreatic islet cell tumor metastasized to the pituitary is associated with pituitary somatotroph hyperplasia and acromegaly. Sanno, N., Teramoto, A., Osamura, R.Y., Genka, S., Katakami, H., Jin, L., Lloyd, R.V., Kovacs, K. J. Clin. Endocrinol. Metab. (1997)
- Human neutrophils express GH-N gene transcripts and the pituitary transcription factor Pit-1b. Kooijman, R., Berus, D., Malur, A., Delhase, M., Hooghe-Peters, E.L. Endocrinology (1997)