Mutations in PROP1 cause familial combined pituitary hormone deficiency

Nature Genetics

Volumn 18, Issue 2, 1998, Pages 147-149

  Wu Wei, ^a   Cogan, Joy D ^b   Pfäffle, Roland W ^c   Dasen, Jeremy S ^a   Frisch, Herwig ^d   O'Connell, Shawn M ^a   Flynn, Sarah E ^a   Brown, Milton R ^e   Mullis, Primus E ^f   Parks, John S ^e   Phillips III, John A ^b   Rosenfeld, Michael G ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^c RWTH AACHEN UNIVERSITY   (Germany)

^d UNIVERSITY OF VIENNA   (Austria)

^e EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; DNA BINDING; GENE MUTATION; HEMATOPOIESIS; HYPOPITUITARISM; INFLAMMATION; MOLECULAR CLONING; MOUSE; NONHUMAN; PEDIGREE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

EID: 17344371881     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0298-147     Document Type: Article

References (13)

1. Sornson, M.W. et al. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism. Nature 384, 327-333 (1996).
2. Raskin, S. et al. Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism. Hum. Genet. 98, 703-705 (1996).
3. Bartke, A. The response of two types of dwarf mice to growth hormone, thyrotropin, and thyroxine. Gen. Comp. Endocrinol. 5, 418-426 (1965).
4. Bartke, A. Genetic models in the study of anterior pituitary hormones, in Genetic Variation in hormone system (ed. Shire, J.) 111-126 (CRC Press, Boca Raton, 1979).
5. Buckwalter, M.S., Katz, R.W. & Camper, S.A. Localization of the panhypopituitary dwarf mutation (df) on mouse chromosome 11 in an intersubspecific backcross. Genomics 10, 515-526 (1991).
6. Gage, P.J., Lossie, A.C., Scarlett, L.M., Lloyd, R.V. & Camper, S.A. Ames dwarf mice exhibit somatotrope commitment but lack growth hormone- releasing factor response. Endocrinology 136, 1161-1167 (1995).
7. Gage, P.J., Roller, M.L., Saunders, T.L., Scarlett, L.M. & Camper, S.A. Anterior pituitary cells defective in the cell-autonomous factor, df, undergo cell lineage specification but not expansion. Development 122, 151-160 (1996).
8. Kappen, C., Schughart, K. & Ruddle, F.H. Early evolutionary origin of major homeodomain sequence classes. Genomics 18, 54-70 (1993).
9. Andersen, B. et al. The Ames dwarf gene is required for Pit-1 gene activation. Dev. Biol. 172, 495-503 (1995).
10. Tang, K., Bartke, A., Gardiner, C.S., Wagner, T.E. & Yun, J.S. Gonadotropin secretion, synthesis, and gene expression in human growth hormone transgenic mice and in Ames dwarf mice. Endocrinology 132, 2518-2524 (1993).
11. Pfäffle, R.W. et al. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science 257, 1118-1121 (1992).
12. Cohen, LE. et al. A "hot spot" in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates. J. Clin. Endocrinol. Metab. 80, 679-684 (1995).
13. Tatsumi, K. et al. Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nature Genet. 1, 56-58 (1992).