Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males
| Autor: | Richard Nixon, Ieuan A. Hughes, Han N. Lim, Simon McBride, H. Chen, J.R. Hawkins, Alison M. Dunning |
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| Rok vydání: | 2000 |
| Předmět: |
Infertility
Male medicine.medical_specialty X Chromosome medicine.drug_class Biology Genitalia Male Interquartile range Internal medicine Y Chromosome Genetics medicine Humans Molecular Biology Genetics (clinical) General Medicine Odds ratio Polyglutamine tract medicine.disease Androgen Androgen receptor Endocrinology Sex steroid Hypospadias Receptors Androgen Karyotyping Peptides |
| Zdroj: | Human molecular genetics. 9(5) |
| ISSN: | 0964-6906 |
| Popis: | The androgen receptor (AR) is essential to the normal development of the male internal and external genitalia. Consequently, impairment of AR function can result in undermasculinized genitalia that vary from a completely female appearance to isolated hypospadias. Since in vitro studies demonstrate that AR function is reduced by expansion of the polyglutamine tract within the receptor [AR(Gln)(n)]; this study examined whether longer AR(Gln)(n) repeats are associated with moderate to severe undermasculinization. The average AR(Gln)(n) length of the undermasculinized group (n = 78, median 25, interquartile range 23-26) was significantly greater than that of the control population (n = 850, median 23, inter-quartile range 22-26, P = 0.002). The odds ratio of having >/=23 repeats (as opposed to |
| Databáze: | OpenAIRE |
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