Genetic and hormonal control of bone volume, architecture, and remodeling in XXY mice

Journal of Bone and Mineral Research

Volumn 25, Issue 10, 2010, Pages 2148-2154

  Liu, Peter Y ^a,b   Kalak, Robert ^b   Lue, YanHe ^a   Jia, Yue ^a   Erkkila, Krista ^a,c   Zhou, Hong ^b   Seibel, Markus J ^b   Wang, Christina ^a   Swerdloff, Ronald S ^a   Dunstan, Colin R ^b  

^a HARBOR UCLA MEDICAL CENTER   (United States)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Aneuploidy; Bone; Klinefelter syndrome; Osteoporosis; Testosterone; X inactivation; XXY

Indexed keywords

SILASTIC; TESTOSTERONE;

ANIMAL CELL; ANIMAL EUTHANASIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE MASS; BONE REMODELING; BREEDING; CASTRATION; CELL COUNT; CONTROLLED STUDY; DUAL ENERGY X RAY ABSORPTIOMETRY; GENETIC REGULATION; HORMONAL REGULATION; IMPLANTATION; KARYOTYPE 46,XY; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; MALE; MICRO-COMPUTED TOMOGRAPHY; MORPHOMETRICS; MOUSE; NONHUMAN; OSTEOCLAST; RADIOIMMUNOASSAY; SURFACE PROPERTY; TESTOSTERONE BLOOD LEVEL; TIBIA;

ANIMALS; BONE REMODELING; CHROMOSOMES, HUMAN, X; DISEASE MODELS, ANIMAL; KARYOTYPING; KLINEFELTER SYNDROME; MALE; MICE; ORCHIECTOMY; RADIOIMMUNOASSAY; SEX CHROMOSOME ABERRATIONS; TESTOSTERONE; TRISOMY;

EID: 77956722433     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1002/jbmr.104     Document Type: Article

References (38)

1. Paulsen CA, De Souza A, Yoshizumi T, Lewis BM. Results of a buccal smear survey in noninstitutionalized adult males. J Clin Endocrinol Metab. 1964;24:1182-1187.
2. Maclean N, Harnden DG, Brown WM, Bond J, Mantle DJ. Sex-chromosome abnormalities in newborn babies. Lancet. 1964;13:286-290.
3. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88:622-626.
4. Klinefelter HGJ, Reifenstein ECJ, Albright F. Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulation hormone. J Clin Endocrinol Metab. 1942;2:615-627.
5. Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959;183:302-303.
6. Simpson JL, de la Cruz F, Swerdloff RS, et al. Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet Med. 2003;5:460-468.
7. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter's syndrome. Lancet. 2004;364:273-283.
8. Smyth CM, Bremner WJ. Klinefelter syndrome. Arch Intern Med. 1998;158:1309-1314.
9. Witkin HA, Mednick SA, Schulsinger F, et al. Criminality in XYY and XXY men. Science. 1976;193:547-555.
10. Bojesen A, Juul S, Birkebaek N, Gravholt CH. Increased mortality in Klinefelter syndrome. J Clin Endocrinol Metab. 2004;89:3830-3834.
11. Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA. Mortality in patients with Klinefelter syndrome in Britain: a cohort study. J Clin Endocrinol Metab. 2005;90:6516-6522.
12. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. J Natl Cancer Inst. 2005;97:1204-1210.
13. Bojesen A, Juul S, Birkebaek NH, Gravholt CH. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab. 2006;91:1254-1260.
14. Aksglaede L, Molgaard C, Skakkebaek NE, Juul A. Normal bone mineral content but unfavourable muscle/fat ratio in Klinefelter syndrome. Arch Dis Child. 2008;93:30-34.
15. Seo JT, Lee JS, Oh TH, Joo KJ. The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndrome. BJU Int. 2007;99:141-146.
16. Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E. X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J Clin Endocrinol Metab. 2004;89:6208-6217.
17. Behre HM, Kliesch S, Leifke E, Link TM, Nieschlag E. Long-term effect of testosterone therapy on bone mineral density in hypogonadal men. J Clin Endocrinol Metab. 1997;82:2386-2390.
18. Wong FH, Pun KK, Wang C. Loss of bone mass in patients with Klinefelter's syndrome despite sufficient testosterone replacement. Osteoporos Int. 1993;3:3-7.
19. De Rosa M, Paesano L, Nuzzo V, et al. Bone mineral density and bone markers in hypogonadotropic and hypergonadotropic hypogonadal men after prolonged testosterone treatment. Journal of Endocrinological Investigation. 2001;24:246-252.
20. van den Bergh JP, Hermus AR, Spruyt AI, Sweep CG, Corstens FH, Smals AG. Bone mineral density and quantitative ultrasound parameters in patients with Klinefelter's syndrome after long-term testosterone substitution. Osteoporos Int. 2001;12:55-62.
21. Kosowicz J, Owecki M, El Ali Z, Sowinski J. Premature fusion and excessive calcification of coronal sutures in patients with Klinefelter syndrome. Neuro Endocrinol Lett. 2006;27:137-141.
22. Nishimura T, Nii E, Urawa M, Nishiyama M, Taki S, Uchida A. Proximal tibiofibular synostosis with 49,XXXXY syndrome, a rare congenital bone anomaly. J Orthop Sci. 2008;13:390-395.
23. Lue Y, Jentsch JD, Wang C, et al. XXY mice exhibit gonadal and behavioral phenotypes similar to Klinefelter syndrome. Endocrinology. 2005;146:4148-4154.
24. Johnson C, Jia Y, Wang C, et al. Role of caspase 2 in apoptotic signaling in primate and murine germ cells. Biol Reprod. 2008;79:806-814.
25. Hahn M, Vogel M, Pompesius-Kempa M, Delling G. Trabecular bone pattern factor - a new parameter for simple quantification of bone microarchitecture. Bone. 1992;13:327-330.
26. Holm S. A simple sequential rejective multiple test procedure. Scand J Statistics. 1979;6:65-70.
27. Ross MT, Grafham DV, Coffey AJ, et al. The DNA sequence of the human X chromosome. Nature. 2005;434:325-337.
28. Liu XG, Liu YJ, Liu J, et al. A bivariate whole genome linkage study identified genomic regions influencing both BMD and bone structure. J Bone Miner Res. 2008;23:1806-1814.
29. Shen H, Zhang YY, Long JR, et al. A genome-wide linkage scan for bone mineral density in an extended sample: evidence for linkage on 11q23 and Xq27. J Med Genet. 2004;41:743-751.
30. Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005;434:400-404.
31. DeLisi LE, Maurizio AM, Svetina C, et al. Klinefelter's syndrome (XXY) as a genetic model for psychotic disorders. Am J Med Genet B Neuropsychiatr Genet. 2005;135:15-23.
32. Silva MJ, Gibson LJ. Modeling the mechanical behavior of vertebral trabecular bone: effects of age-related changes in microstructure. Bone. 1997;21:191-199.
33. Vico L, Vanacker JM. Sex hormones and their receptors in bone homeostasis: insights from genetically modified mouse models. Osteoporos Int. 2009.
34. Chiang C, Chiu M, Moore AJ, et al. Mineralization and bone resorption are regulated by the androgen receptor in male mice. J Bone Miner Res. 2009;24:621-631.
35. Venken K, Moverare-Skrtic S, Kopchick JJ, et al. Impact of androgens, growth hormone, and IGF-I on bone and muscle in male mice during puberty. J Bone Miner Res. 2007;22:72-82.
36. Koller DL, Schriefer J, Sun Q, et al. Genetic effects for femoral biomechanics, structure, and density in C57BL/6J and C3H/HeJ inbred mouse strains. J Bone Miner Res. 2003;18:1758-1765.
37. Callewaert F, Venken K, Ophoff J, et al. Differential regulation of bone and body composition in male mice with combined inactivation of androgen and estrogen receptor-alpha. FASEB J. 2009;23:232-240.
38. Wiren KM, Semirale AA, Zhang XW, et al. Targeting of androgen receptor in bone reveals a lack of androgen anabolic action and inhibition of osteogenesis: a model for compartment-specific androgen action in the skeleton. Bone. 2008;43:440-451.