Sex Chromosomes: Genetics, Abnormalities, and Disorders

Sex chromosomes determine the sex of an organism. A human somatic cell has two sex chromosomes: XY in male and XX in female. A human germ cell has one sex chromosome: X or Y in a sperm and X in an egg. When an X-sperm is combined with an egg, the resulting zygote (fertilised egg) will contain two X chromosomes. A person developed from the XX-zygote will have the characteristics of a female. Combination of a Y-sperm and an egg will produce a male. Usually, a woman has two X chromosomes (XX) and a man one X and one Y (XY). However, both male and female characteristics can sometimes be found in one individual, and it is possible to have XY women and XX men. Analysis of such individuals has revealed some of the molecules involved in sex determination, including one called SRY, which is important for testis formation. SRY (which stands for sex-determining region Y gene) is found on the Y chromosome. In the cell, it binds to other DNA and in doing so distorts it dramatically out of shape. This alters the properties of the DNA and likely alters the expression of a number of genes, leading to testis formation. Most XX men who lack a Y chromosome do still have a copy of the SRY gene on one of their X chromosomes (moved there by chromosomal translocation). This copy accounts for their maleness. However, because the remainder of the Y chromosome is missing they frequently do not develop secondary sexual characteristics in the usual way. This book presents the latest research in the field from around the world.