Pit1 abnormality

Growth Hormone and IGF Research

Volumn 9, Issue SUPPL. B, 1999, Pages 18-23

  Tatsumi, K I ^a   Amino, N ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

Growth hormone prolactin; Hypothyroidism; Pit 1 GHF 1; PIT1; POUIF1; Thyroid stimulating hormone; Thyrotropin; Transcription factor disease

Indexed keywords

ADENOHYPOPHYSIS HORMONE; GENE PRODUCT; GROWTH HORMONE; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR;

ADENOHYPOPHYSIS DISEASE; CLINICAL ARTICLE; CONFERENCE PAPER; DNA BINDING; DWARFISM; GENE MUTATION; GENETIC TRANSCRIPTION; GROWTH HORMONE DEFICIENCY; HORMONE DEFICIENCY; HUMAN; HYPOTHYROIDISM; PRIORITY JOURNAL; PROMOTER REGION;

EID: 0032888539     PISSN: 10966374     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-6374(99)80076-8     Document Type: Conference Paper

References (34)

1. Bodner M. Castrillo J.-L. Theill L.E. Deerinck T. Ellisman M. Karin M. The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein Cell 55 1988 505 518
2. Ingraham H.A. Chen R. Mangalam H.J. Elsholtz H.P. Flynn S.E. Lin C.R. A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotype Cell 55 1988 519 529
3. Tatsumi K. Characteristics of the Pituitary Specific Factor 1 gene Clin Pediatr Endocrinol 4 1995 27 31
4. Simmons D.M. Voss J.W. Ingraham H.A. Holloway J.M. Broide R.S. Rosenfeld M.G. Pituitary cell phenotypes involve cellspecific Pit-1 mRNA translation and synergistic interactions with other classes of transcription factors Genes Dev 4 1990 695 711
5. Li S. Crenshaw E.B. III Rawson E.J. Simmons D.M. Swanson L.W. Rosenfeld M.G. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1 Nature 347 1990 528 533
6. Castrillo J.-L. Theill L.E. Karin M. Function of the homeodomain protein GHF1 in pituitary cell proliferation Science 253 1991 197 199
7. Tatsumi K. Miyai K. Notomi T. Kaibe K. Amino N. Mizuno Y. Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene Nat Genet 1 1992 56 58
8. Miyai K. Azukizawa M. Kumahara Y. Familial isolated thyrotropin deficiency with cretinism N Engl J Med 285 1971 1043 1048
9. [corrigenda; 3542] Hayashizaki Y. Hiraoka Y. Endo Y. Miyai K. Matsubara K. Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the β-subunit EMBO J 8 1989 2291 2296
10. Hayashizaki Y. Hiraoka Y. Tatsumi K. Hashimoto T. Furuyama J. Miyai K. Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency J Clin Endocrinol Metab 71 1990 792 796
11. Kohno H. Watanabe N. Ootsuka M. Kajiwara M. Gohya N. Pituitary cretinism in two sisters Arch Dis Child 55 1980 725 727
12. Miyai K. Hayashizaki Y. Hiraoka Y. Tatsumi K. Matsubara K. Endo Y. Familial hypothyroidism due to thyrotropin gene abnormality Imura H. Shizume K. Yoshida S. Progress in Endocrinology Vol 1 1998 Elsevier Amsterdam 545 550
13. Tatsumi K. Notomi T. Amino N. Miyai K. Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1 Biochim Biophys Acta 1129 1992 231 234
14. Ingraham H.A. Flynn S.E. Voss J.W. Albert V.R. Kapiloff M.S. Wilson L. The POU-specific domain of Pit-1 is essential for sequence-specific, high affinity DNA binding and DNA-dependent Pit-1-Pit-1 interactions Cell 61 1990 1021 1033
15. Brown M.R. Parks J.S. Adess M.E. Rich B.H. Rosenthal I.M. Voss T.C. Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene Horm Res 49 1998 98 102
16. Irie Y. Tatsumi K. Ogawa M. Kamijo T. Preeyasombat C. Suprasongsin C. A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency Endocrinol J 42 1995 351 354
17. Pfäffle R.W. DiMattia G.E. Parks J.S. Brown M.R. Wit J.M. Jansen M. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia Science 257 1992 1118 1121
18. Radovick S. Nations M. Du Y.F. Berg L.A. Weintraub B.D. Wondisford F.E. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency Science 257 1992 1115 1118
19. Ohta K. Nobukuni Y. Mitsubuchi H. Ohta T. Tohma T. Jinno Y. Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1 Gene 122 1992 387 388
20. Okamoto N. Wada Y. Ida S. Koga R. Ozono K. Chiyo H. Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormalphenotype Hum Mol Genet 3 1994 1565 1568
21. de Zegher F. Pernasetti F. Vanhole C. Devlieger H. Van den Berghe G. Martial J.A. The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency J Clin Endocrinol Metab 80 1995 3127 3130
22. Cohen L.E. Wondisford F.E. Salvatoni A. Maghnie M. Brucker-Davis F. Weintraub B.D. A ‘hot spot’ in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates J Clin Endocrinol Metab 80 1995 679 684
23. Aarskog D. Eiken H.G. Bjerknes R. Myking O.L. Pituitary dwarfism in the R271W Pit-1 gene mutation Eur J Pediatr 156 1997 829 834
24. Holl R.W. Pfäffle R. Kim C. Sorgo W. Teller W.M. Heimann G. Combined pituitary deficiencies of growth hormone, thyroid stimulating hormone and prolactin due to Pit-1 gene mutation: a case report Eur J Pediatr 156 1997 835 837
25. Ward L. Chavez M. Huot C. Lecocq P. Collu R. Decarie J.C. Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation J Pediatr 132 1998 1036 1038
26. Pernasetti F. Milner R.D. al Ashwal A.A. de Zegher F. Chavez V.M. Muller M. Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency J Clin Endocrinol Metab 83 1998 2079 2083
27. Liang J. Moye-Rowley S. Maurer R.A. In vivo mutational analysis of the DNA binding domain of the tissue-specific transcription factor, Pit-1 J Biol Chem 270 1995 25520 25525
28. Pellegrini-Bouiller I. Belicar P. Barlier A. Gunz G. Charvet J.P. Jaquet P. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency J Clin Endocrinol Metab 81 1996 2790 2796
29. Irie Y. Tatsumi K. Kusuda S. Kawawaki H. Boyages S.C. Nose O. Screening for PIT1 abnormality by PCR direct sequencing method Thyroid 5 1995 207 211
30. Ohta K. Nobukuni Y. Mitsubuchi H. Fujimoto S. Natsuo N. Inagaki H. Mutations in the PIT-1 gene in children with combined pituitary hormone deficiency Biochem Biophys Res Comm 189 1992 851 855
31. (Abstract) Hasegawa Y. Kikuchi K. Ohie T. Tatsumi K. A boy with PIT1 gene mutation Clin Pediatr Endocrinol 4 1995 210
32. Fofanova O.V. Takamura N. Kinoshita E. Yoshimoto M. Tsuji Y. Peterkova V.A. Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency Am J Med Genet 77 1998 360 365
33. Tatsumi K. Miyai K. Amino N. Genetic basis of congenital hypothyroidism: abnormalities in the TSH bgene, the PIT1 gene and the NIS gene Clin Chem Lab Med 36 1998 659 662
34. Tatsumi K. Amino N. The pituitary specific transcription factor Pit-1/GHF-1 and PIT1 abnormality (in Japanese) Rinsho Byori 45 1997 656 659