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07-Jun-2017 19:41

The phenotype of such an individual is a matter of speculation; as of 2010, no such documented case has been published.

Individuals with partial AIS, unlike those with the complete or mild forms, present at birth with ambiguous genitalia, and the decision to raise the child as male or female is often not obvious.

in the cytoplasm, and then translocates into the nucleus where it binds to DNA, provided androgen response elements and coactivators are present.

This combination functions as a transcription complex to turn on androgen gene expression.

Upon steroid binding, the androgen receptor (AR) undergoes a conformational change and releases heat shock proteins (hsps).

Phosphorylation (P) occurs before or after steroid binding.

Like other nuclear receptors, the AR protein consists of several functional domains: the transactivation domain (also called the transcription-regulation domain or the amino / NH2-terminal domain), the DNA-binding domain, the hinge region, and the steroid-binding domain (also called the carboxyl-terminal ligand-binding domain).

Some studies indicate that the length of the polyglutamine tract is inversely correlated with transcriptional activity in the AR protein, and that longer polyglutamine tracts may be associated with male infertility A comprehensive meta-analysis of the subject published in 2007 supports the existence of the correlation, and concluded these discrepancies could be resolved when sample size and study design are taken into account.

Bottom, illustration of the AR protein, with primary functional domains labeled (not representative of actual 3-D structure).individuals with a 46, XY karyotype always express the mutant gene since they have only one X chromosome, whereas 46, XX carriers are minimally affected.About 30% of the time, the AR mutation is a spontaneous result, and is not inherited.Theoretically, certain mutant androgen receptors can function without androgens; in vitro studies have demonstrated that a mutant androgen receptor protein can induce transcription in the absence of androgen if its steroid binding domain is deleted.

Human embryos develop similarly for the first six weeks, regardless of genetic sex (46, XX or 46, XY karyotype); the only way to tell the difference between 46, XX or 46, XY embryos during this time period is to look for Barr bodies or a Y chromosome.Women (chromosomal XX) who are heterozygous for the AR gene have normal primary and secondary sexual characteristics; this female carrier will pass the affected AR gene to any child she has with 50% likelihood.



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"This work was supported by the German Research Foundation (DFG) within the funding programme Open Access Publishing." Die Artikelbearbeitungsgebühren können auf Antrag vollständig aus den von der DFG und der Universität Regensburg zur Verfügung gestellten Mitteln übernommen werden, sofern die aufgeführten Kriterien erfüllt sind.… continue reading »


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