In heterozygous females, there are irregular patches of skin having few or no sweat glands.

F3 generation

F3 generation

Identical twins

The placement of these patches varies among affected women owing to random X-chromosome inactivation.

Identical twins

I 4.1 Three generations of women heterozygous for the X-linked recessive disorder anhidrotic ectodermal dysplasia, which is inherited as an X-linked recessive trait. (After A. P. Mance and J. Mance, Genetics: Human Aspects, Sinauer, 1990, p. 133.)

glands; the placement of these patches varies among affected women ( FIGURE 4.1). The patchy occurrence of these features is explained by the fact that the gene for anhidrotic ectodermal dysplasia is located on a sex chromosome. Additional information about anhidrotic ectodermal dysplasia, including symptoms, history, and genetics

In Chapter 3, we studied Mendel's principles of segregation and independent assortment and saw how these principles explain much about the nature of inheritance. After Mendel's principles were rediscovered in 1900, biologists began to conduct genetic studies on a wide array of different organisms. As they applied Mendel's principles more widely, exceptions were observed, and it became necessary to devise extensions to his basic principles of heredity.

In this chapter, we explore one of the major extensions to Mendel's principles: the inheritance of characteristics encoded by genes located on the sex chromosomes, which differ in males and females ( FIGURE 4.2). These characteristics and the genes that produce them are referred to as sex linked. To understand the inheritance of sex-linked characteristics, we must first know how sex is determined—why some members of a species are male and others are female. Sex determination is the focus of the first part of the chapter. The second part examines how characteristics encoded by genes on the sex chromosomes are inherited. In Chapter 5, we will explore some additional ways in which sex and inheritance interact.

As we consider sex determination and sex-linked characteristics, it will be helpful to think about two important principles. First, there are several different mechanisms of sex determination and, ultimately, the mechanism of sex determination controls the inheritance of sex-linked characteristics. Second, like other pairs of chromosomes, the X and Y sex chromosomes may pair in the course of meiosis and segregate, but throughout most of their length they are not homologous (their gene sequences don't code for the same characteristics): most genes on the X chromosome are different from genes on the Y chromosome. Consequently, males and females do not possess the same number of alleles at sex-linked loci. This difference in the number of sex-linked alleles produces the distinct patterns of inheritance in males and females.

I 4.2 The sex chromosomes of males (Y) and females (X) are different. (Biophoto Associates/Photo Researchers.)

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