Heterozygote effects in mice with partial truncations in the growth hormone receptor cytoplasmic domain: Assessment of growth parameters and phenotype

Endocrinology

Volumn 146, Issue 12, 2005, Pages 5278-5286

  Rowland, Jennifer E ^a   Kerr, Linda M ^a   White, Mary ^a   Noakes, Peter G ^a   Waters, Michael J ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE RECEPTOR;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BODY GROWTH; CONTROLLED STUDY; CYTOPLASM; ENDOCYTOSIS; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE RELEASE; MALE; MOLECULAR DYNAMICS; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REPRODUCTION; SIGNAL TRANSDUCTION;

ANIMALS; ANIMALS, NEWBORN; CYTOPLASM; FERTILITY; HETEROZYGOTE; INSULIN-LIKE GROWTH FACTOR I; LIVER; MALE; MICE; MICE, KNOCKOUT; ORGAN SIZE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, SOMATOTROPIN; RNA, MESSENGER; SEX CHARACTERISTICS; TIME FACTORS;

EID: 27844510453     PISSN: 00137227     EISSN: 00137227     Source Type: Journal    
DOI: 10.1210/en.2005-0939     Document Type: Article

References (36)

1. Laron Z, Pertzelan A, Mannheimer S 1966 Genetic pituitary dwarfism with high serum concentration of growth hormone-a new inborn error of metabolism? Isr J Med Sci 2:152-155
2. Iida K, Takahashi Y, Kaji H, Onodera N, Okazaki T, Okimura Y, Abe H, Chihara K 1999 The C422F mutation of the growth hormone receptor gene is not responsible for short stature. J Clin Endocrinol Metab 84:4214-4219
3. Salerno M, Balestrieri B, Matrecano E, Officioso A, Rosenfeld RG, Di Maio S, Fimiani G, Ursini MV, Pignata C 2001 Abnormal GH receptor signaling in children with idiopathic short stature. J Clin Endocrinol Metab 86:3882-3888
4. Rosenbloom AL, Guevara-Aguirre J, Rosenfeld RG, Francke U 1999 Growth hormone receptor deficiency in Ecuador. J Clin Endocrinol Metab 84: 4436-4443
5. Goddard AD, Covello R, Luoh SM, Clackson T, Attie KM, Gesundheit N, Rundle AC, Wells JA, Carlsson LM 1995 Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group. N Engl J Med 333:1093-1098
6. Woods KA, Clark AJL, Amselem S, Savage MO 1999 Relationship between phenotype and genotype in growth hormone insensitivity syndrome. Acta Paediatr Suppl 428:158-162
7. Zhou Y, Xu BC, Maheshwari HG, He L, Reed M, Lozykowski M, Okada S, Cataldo L, Coschigano K, Wagner TE, Baumann G, Kopchick JJ 1997 A mammalian model for Laron syndrome produced by targeted disruption of the mouse growth hormone receptor/binding protein gene (the Laron mouse). Proc Natl Acad Sci USA 94:13215-13220
8. Rowland JE, Lichanska AM, Kerr LM, White M, d'Aniello EM, Maher SL, Brown R, Teasdale RD, Noakes PG, Waters MJ 2005 In vivo analysis of growth hormone receptor signaling domains and their associated transcripts. Mol Cell Biol [Erratum (2005) 25:2072] 25:66-77
9. Rosenbloom AL, Guevara-Aguirre J, Berg MA, Francke U 1998 Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives. J Clin Endocrinol Metab 83:2373-2735
10. Goddard A, Dowd P, Chernausek S, Geffner M, Gertner J, Hintz R, Hopwood N, Kaplan S, Plotnick L, Rogol A, Rosenfeld R, Saenger P, Mauras N, Hershkopf R, Angulo M, Attie K 1997 Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature. J Pediatr 131:S51-S55
11. Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hubner C, Savage MO, Bidlingmaier CM, Clark AJ, Ross RJ, Webb SM 2004 Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction. J Clin Endocrinol Metab 89:1259-1266
12. Strous GJ, dos Santos CA, Gent J, Govers R, Sachse M, Schantl J, van Kerkhof P 2004 Ubiquitin system-dependent regulation of growth hormone receptor signal transduction. Curr Top Microbiol Immunol 286:81-118
13. Ayling RM, Ross R, Towner P, Von Laue S, Finidori J, Moutoussamy S, Buchanan CR, Clayton PE, Norman MR 1997 A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 16:13-14
14. Ross RJ, Esposito N, Shen XY, Von Laue S, Chew SL, Dobson PR, Postel-Vinay MC, Finidori J 1997 A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein. Mol Endocrinol 11:265-273
15. Iida K, Takahashi Y, Kaji H, Nose O, Okimura Y, Abe H, Chihara K 1998 Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice mutation of the GH receptor gene producing a lack of intracellular domain. J Clin Endocrinol Metab 83:531-537
16. Lupu F, Terwilliger JD, Lee K, Segre GV, Efstratiadis A 2001 Roles of growth hormone and insulin-like growth factor 1 in mouse postnatal growth. Dev Biol 229:141-162
17. Norstedt G, Palmiter R 1984 Secretory rhythm of growth hormone regulates sexual differentiation of mouse liver. Cell 36:805-812
18. Udy GB, Towers RP, Snell RG, Wilkins RJ, Park SH, Ram PA, Waxman DJ, Davey HW 1997 Requirement of STAT5b for sexual dimorphism of body growth rates and liver gene expression. Proc Natl Acad Sci USA 94:7239-7244
19. Teglund S, McKay C, Schuetz E, van Deursen JM, Stravopodis D, Wang D, Brown M, Bodner S, Grosveld G, Ihle JN 1998 Stat5a and Stat5b proteins have essential and nonessential, or redundant, roles in cytokine responses. Cell 93:841-850
20. Coschigano KT, Clemmons D, Bellush LL, Kopchick JJ 2000 Assessment of growth parameters and life span of GHR/BP gene-disrupted mice. Endocrinology 141:2608-2613
21. Sims NA, Clement-Lacroix P, Da Ponte F, Bouali Y, Binart N, Moriggl R, Goffin V, Coschigano K, Gaillard-Kelly M, Kopchick J, Baron R, Kelly PA 2000 Bone homeostasis in growth hormone receptor-null mice is restored by IGF-I but independent of Stat5. J Clin Invest 106:1095-1103
22. Rosenfeld RG, Rosenbloom AL, Guevara Aguirre J 1994 Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 15:369-390
23. Yakar S, Liu JL, Stannard B, Butler A, Accili D, Sauer B, LeRoith D 1999 Normal growth and development in the absence of hepatic insulin-like growth factor I. Proc Natl Acad Sci USA 96:7324-7329
24. Wallenius K, Sjogren K, Peng XD, Park S, Wallenius V, Liu JL, Umaerus M, Wennbo H, Isaksson O, Frohman L, Kineman R, Ohlsson C, Jansson JO 2001 Liver-derived IGF-I regulates GH secretion at the pituitary level in mice. Endocrinology 142:4762-4770
25. Sjogren K, Liu JL, Blad K, Skrtic S, Vidal O, Wallenius V, LeRoith D, Tornell J, Isaksson OG, Jansson JO, Ohlsson C 1999 Liver-derived insulin-like growth factor I (IGF-I) is the principal source of IGF-I in blood but is not required for postnatal body growth in mice. Proc Natl Acad Sci USA 96:7088-7092
26. Liu JL, Yakar S, LeRoith D 2000 Mice deficient in liver production of insulin-like growth factor I display sexual dimorphism in growth hormone-stimulated postnatal growth. Endocrinology 141:4436-4441
27. -/- mice. Biochem Biophys Res Commun 267:603-608
28. Danilovich N, Wernsing D, Coschigano K, Kopchick J, Bartke A 1999 Deficits in female reproductive function in GH-R-KO mice: role of IGF-I. Endocrinology 140:2637-2640
29. Matsumoto A, Seki Y, Kubo M, Ohtsuka S, Suzuki A, Hayashi I, Tsuji K, Nakahata T, Okabe M, Yamada S, Yoshimura A 1999 Suppression of STAT5 functions in liver, mammary glands, and T cells in cytokine-inducible SH2-containing protein 1 transgenic mice. Mol Cell Biol 19:6396-6407
30. Davey HW, Xie T, McLachlan MJ, Wilkins RJ, Waxman DJ, Grattan DR 2001 STAT5b is required for GH-induced liver IGF-I gene expression. Endocrinology 142:3836-3841
31. Sjogren K, Sheng M, Moverare S, Liu JL, Wallenius K, Tornell J, Isaksson O, Jansson JO, Mohan S, Ohlsson C 2002 Effects of liver-derived insulin-like growth factor I on bone metabolism in mice. J Bone Miner Res 17:1977-1987
32. Li H, Bartold PM, Zhang CZ, Clarkson RW, Young WG, Waters MJ 1998 Growth hormone and insulin-like growth factor I induce bone morphogenetic proteins 2 and 4: a mediator role in bone and tooth formation? Endocrinology 139:3855-3862
33. Li H, Bartold PM, Young WG, Xiao Y, Waters MJ 2001 Growth hormone induces bone morphogenetic proteins and bone-related proteins in the developing rat periodontium. J Bone Miner Res 16:1068-1076
34. Keene DE, Suescun MO, Bostwick MG, Chandrashekar V, Bartke A, Kopchick JJ 2002 Puberty is delayed in male growth hormone receptor genedisrupted mice. J Androl 23:661-668
35. Waters MJ, Kaye PL 2002 The role of growth hormone in fetal development. Growth Horm IGF Res 12:137-146
36. Davey HW, Wilkins RJ, Waxman DJ 1999 STAT5 signaling in sexually dimorphic gene expression and growth patterns. Am J Hum Genet 65:959-965