Turner syndrome and the evolution of human sexual dimorphism

作者: Bernard Crespi

DOI: 10.1111/J.1752-4571.2008.00017.X

关键词:

摘要: Turner syndrome is caused by loss of all or part an X chromosome in females. A series recent studies has characterized phenotypic differences between females retaining the intact maternally inherited versus paternally chromosome, which have been interpreted as evidence for effects X-linked imprinted genes. In this study I demonstrate that with a maternal and paternal broadly parallel males normal large suite traits, including lipid profile visceral fat, response to growth hormone, sensorineural hearing loss, congenital heart kidney malformations, neuroanatomy (sizes cerebellum, hippocampus, caudate nuclei superior temporal gyrus), aspects cognition. This pattern indicates diverse human sex are mediated genes, via genomic imprinting such higher rates mosaicism origin, karyotypic some combination these phenomena. Determining relative contributions imprinting, karyotype variation phenotypes important implications both clinical treatment individuals syndrome, hypotheses evolution development sexual dimorphism.

参考文章(123)
Anne M. Wikström, Jodie N. Painter, Taneli Raivio, Kristiina Aittomäki, Leo Dunkel, Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome. Clinical Endocrinology. ,vol. 65, pp. 92- 97 ,(2006) , 10.1111/J.1365-2265.2006.02554.X
D. Prandstraller, L. Mazzanti, F.M. Picchio, C. Magnani, R. Bergamaschi, A. Perri, E. Tsingos, E. Cacciari, TURNER'S SYNDROME: CARDIOLOGIC PROFILE ACCORDING TO THE DIFFERENT CHROMOSOMAL PATTERNS AND LONG-TERM CLINICAL FOLLOW-UP OF 136 NONPRESELECTED PATIENTS Pediatric Cardiology. ,vol. 20, pp. 108- 112 ,(1999) , 10.1007/S002469900416
Marie-Louise Barrenäs, Olle Nylén, Charles Hanson, The influence of karyotype on the auricle, otitis media and hearing in Turner syndrome Hearing Research. ,vol. 138, pp. 163- 170 ,(1999) , 10.1016/S0378-5955(99)00162-8
AnnaK Naumova, Leonard Olien, LynneM Bird, Mark Smith, AndreiE Verner, Mark Leppert, Kenneth Morgan, Carmen Sapienza, Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human European Journal of Human Genetics. ,vol. 6, pp. 552- 562 ,(1998) , 10.1038/SJ.EJHG.5200255
Pia Burman, Anna G. Johansson, Agneta Siegbahn, Bengt Vessby, F. Anders Karlsson, Growth hormone (GH)-deficient men are more responsive to GH replacement therapy than women. The Journal of Clinical Endocrinology and Metabolism. ,vol. 82, pp. 550- 555 ,(1997) , 10.1210/JCEM.82.2.3776
Phoebe M.Y. Lynn, William Davies, The 39,XO mouse as a model for the neurobiology of Turner syndrome and sex-biased neuropsychiatric disorders Behavioural Brain Research. ,vol. 179, pp. 173- 182 ,(2007) , 10.1016/J.BBR.2007.02.013
Daniel F. Hermens, Michael R. Kohn, Simon D. Clarke, Evian Gordon, Leanne M. Williams, Sex differences in adolescent ADHD: findings from concurrent EEG and EDA Clinical Neurophysiology. ,vol. 116, pp. 1455- 1463 ,(2005) , 10.1016/J.CLINPH.2005.02.012
Carl Feinstein, Sonia Singh, Social Phenotypes in Neurogenetic Syndromes Child and Adolescent Psychiatric Clinics of North America. ,vol. 16, pp. 631- 647 ,(2007) , 10.1016/J.CHC.2007.03.006
Eric J. Vallender, Bruce T. Lahn, How mammalian sex chromosomes acquired their peculiar gene content. BioEssays. ,vol. 26, pp. 159- 169 ,(2004) , 10.1002/BIES.10393