Chromosomes and Sex Linkage

Sex-Linkage Genes that are located on sex-determining chromosomes are said to be sex-linked While various situations exist in nature, we will look at those that involve X and Y chromosomes such that XX individuals are female and the chromosomes are homologous, and XY individuals are male and the chromosomes are not homologous; in addition, we will look only at sex-linked genes that are carried on the X chromosome Females have two X chromosomes; therefore, they have two alleles for a sex-linked character and can be homozygous dominant, homozygous recessive, or heterozygous Males have only one X chromosome; therefore, they have only one allele for a sex-linked character and can be only hemizygous dominant or hemizygous recessive Therefore, females can be carriers of recessive alleles (when they are heterozygous), but males cannot be carriers (they are either phenotypically dominant or recessive depending on which allele they have) The normal (most common) phenotype for a character, such as red eyes in fruit flies, is called the wild type Traits that are alternatives to the wild type, such as white eyes in fruit flies, are called mutant phenotypes In fruit flies (see fig. 15.2 and 15.3), the allele for red eye color can be shown as Xw+ (the + indicates that it is the dominant, wild type allele) and the allele for white eye color can be shown as Xw Females can be Xw+Xw+ (homozygous dominant with red eyes), Xw+Xw (heterozygous with red eyes and, therefore, carrier of the white eye color allele), or XwXw (homozygous recessive with white eyes) The gene does not exist on the Y chromosome, so males can be shown as either Xw+Y (hemizygous dominant with red eyes) or XwY (hemizygous recessive with white eyes The gene for eye color was found to be sex linked when the following results were obtained: red-eyed female x white-eyed male F1 red-eyed female x F1 red-eyed male 100% red-eyed (F1) 75% red-eyed and 25% white-eyed (F2)

However, white eye color showed up only in males all of the F2 females had red eyes, while 50% of the F2 males had red eyes and 50% had white eyes

These results can be explained as follows (see fig. 15.3) First Cross Xw+Xw+ (red-eyed female) x XwY (white-eyed male) Male Sex Cells 50% Xw 50% Y Female Sex Cells 100% Xw+ 50% Xw+Xw red-eyed 50% Xw+Y red-eyed

Second Cross Xw+Xw (red-eyed carrier female) x Xw+Y (red-eyed male) Male Sex Cells 50% Y 50% Xw+ 50% Xw+ Female Sex Cells 50% Xw 25% Xw+Xw red-eyed 25% XwY white-eyed 25% Xw+Xw+ red-eyed 25% Xw+Y red-eyed

Similar sex-linked gene situations occurring in humans include hemophilia, Duchenne muscular dystrophy, and color blindness Genotype Xh+Xh+ Xh+Xh Xh Xh Xh+Y Xh Y Xd+Xd+ Xd+Xd Xd Xd Xd+Y Xd Y Xc+Xc+ Xc+Xc Xc Xc Xc+Y Xc Y Phenotype Normal female Normal female carrier of the hemophilia allele Female with hemophilia (very unlikely) Normal male Male with hemophilia Normal female Normal female carrier of the muscular dystrophy allele Female with Duchenne muscular dystrophy Normal male Male with Duchenne muscular dystrophy Normal female Normal female carrier of the color blindness allele Female with color blindness Normal male Male with color blindness

All sex-linked characters of the type discussed here are inherited in the same way (see fig. 15.9) For purposes of these examples XA represents the dominant allele, and Xa represents the recessive allele (which could be the allele for white eye color in fruit flies, or the allele for hemophilia, Duchenne muscular dystrophy, or color blindness in humans) Example 1 XAXA (normal female) x XaY (affected male) Male Sex Cells 50% Xa 50% Y Female Sex Cells 100% XA 50% XAXa 50% XAY

In the cross of a homozygous dominant female with a hemizygous recessive (affected) male, the result is always 50% heterozygous (carrier) females and 50% hemizygous dominant (normal) males

Example 2 XAXa (carrier female) x XAY (normal male) Male Sex Cells 50% XA 50% Y 50% XA Female Sex Cells 50% Xa 25% XAXa 25% XaY 25% XAXA 25% XAY

In the cross of a heterozygous (carrier) female with a hemizygous dominant (normal) male, the result is always 25% homozygous dominant females, 25% heterozygous (carrier) females, 25% hemizygous dominant (normal) males, and 25% hemizygous recessive (affected) males

Example 3 XAXa (carrier female) x XaY (affected male) Male Sex Cells 50% Xa 50% Y 50% XA Female Sex Cells 50% Xa 25% XaXa 25% XaY 25% XAXa 25% XAY

In the cross of a heterozygous (carrier) female with a hemizygous recessive (affected) male, the result is always 25% heterozygous (carrier) females, 25% homozygous recessive (affected) females, 25% hemizygous dominant (normal) males, and 25% hemizygous recessive (affected) males; this is why females with sex-linked recessive conditions are so rare in the human population it is unusual for carrier females and affected males to meet and mate X-Inactivation in Female Mammals Female mammals, including humans, inherit two X chromosomes, but one X chromosome in each cell becomes almost completely inactive during embryonic development Hence, both males and females have the same effective dose (one copy) of genes with loci on the X chromosome The inactive X condenses into a Barr body, which lies along the nuclear envelope and can be seen with a compound microscope Because X-inactivation occurs at a multi-celled stage and selection of which X will become the Barr body is completely random, approximately half of the cells end up with an inactive paternally-derived X and half end up with an inactive maternally-derived X All mitotic descendents of these cells have the same inactive X; therefore, females consist of a mosaic of two types of cells those with the active X derived from the mother, and those with the active X derived from the father If a female is heterozygous for a sex-linked trait, approximately half her cells will express one allele, and the other half will express the alternative allele The color pattern in female tortoiseshell cats results from X-inactivation (see fig. 15.10)
This lecture outline was prepared mainly from Biology, by Campbell and Reece, 2002 (6th edition), and may contain phrases or entire sentences taken verbatim from that source.