Solve it: Does Sex Determination Have Only Two Possible outcomes: Male or Female

Question

Solve it: Does Sex Determination Have Only Two Possible outcomes: Male or Female? One of the most fundamental aspects of personhood is your biological sex: "It's a girl!" or "It's a boy!" is often the first statement about who you are. Most people view biological sex as a straightforward, eitherlor issue-either a person is biologically male or biologically female. Like all biological characteristics, however, sex determination is achieved through a developmental process. All developmental processes exhibit variation, and sex determination is no exception. In some cases, this variation leads to individuals who are intersex: individuals who are not unambiguously male or female, but who exhibit characteristics of both sexes One area where intersex individuals come under scrutiny is in competitive sports, where men's and women's events are controlled to exclude the opposite sex. Typically, concerns are directed to excluding males from females' events. To learn more about one recent example, do an Internet search on Olympic runner Caster Semenya. In this exercise, you will examine two hypothetical athletes who are anatomically female and want to compete as females. However, their sex has been called into question, in part due to their remarkable athletic performance. As the leader of a research team that studies sex determination, you coordinate a number of tests to investigate on behalf of the International Olympic Committee (IOC). Note: The realization that one may be an intersex individual can be a troubling experience. It is important to note that intersex individuals can lead happy, fulfilling lives. If you suspect that you might be an intersex individual similar to the hypothetical cases discussed in this tutorial, you should consult your doctor.

Explanation / Answer

Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome with the associatetion of thermolabile androgen receptor.In some cases amino acid replacement renders the receptor completely unable to bind ligand.It is suposed alteration of HBD structure is destroyed.

This conformational change blocks the capacity of the AR to bind its ligand and the mutant receptor is locked into an inactive conformation.This is functionally called mutaions.

Offenly amino acid subtitution in the HBD lead to the synthesis of mutant ARs that exibits ligand binding properities that are abnormal compared with the binding properties of the normal. Bind ligand with areduced affinity or stability.

The degree of impairment of receptor binding to DNA appears to have a direct relationship to the degree that receptop finction is reduced,hold true for large alterations of receptor structure with inthe DNA binding domainthat maintain.

Single nucleotide subtitutions that resul in single amino acid changes with the AR protein are the most frequent type of mutation in AR path way.These defectes are localized to the hormone binding domain of the receptor.Not like the deletion subtitultion mutations it is some what different that is entire antigen ressitance phenotypes has been traced to single amino acid subtitution with in the AR protein.

these defects shows i.e effects on level of AR abondance,as measured in patients fiboblasts.

AR gene,single nucleotide subtitutions results single amino acid changes,and leads to AR mutations.In some cases large changes of receptors structure,and leads to the alteration of AR mRNA slicing or introduction of premeture codons with inthe open rading frame.

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