Question

Can the Lyon hypothesis be tested in a human female who is homozygous for one allele of the X-linked G6PD gene? Why, or why not?

Short answer

Answer: No, the Lyon hypothesis cannot be adequately tested in a human female who is homozygous for one allele of the X-linked G6PD gene. This is because both active and inactive X chromosomes carry the same allele, and X-inactivation will not produce an observable difference in the expression of the G6PD gene in this individual.

Step-by-step solution

Understand the Lyon hypothesis

The Lyon hypothesis or X-chromosome inactivation is a crucial mechanism in female mammals, which ensures that only one X chromosome remains active in each cell. As a result, genes on the X chromosome in females are expressed similarly to the expression of genes on the single X chromosome in males.

Identify the genetic properties of the G6PD gene

G6PD (glucose-6-phosphate dehydrogenase) gene is an X-linked gene, meaning it is located on the X chromosome. Being homozygous for one allele of this gene means that the individual has two copies of the same allele on both X chromosomes.

Evaluate the relation between G6PD gene and the Lyon hypothesis

To test the Lyon hypothesis, there must be an observable difference in the expression of X-linked genes between the two X chromosomes in a female. In the case of a female homozygous for one allele of the G6PD gene, both of her X chromosomes carry the same allele. So, even if X-inactivation occurs, it will be difficult to observe a difference in the expression of the G6PD gene since the same allele will be expressed on both the active and inactive X chromosomes.

Conclude whether the Lyon hypothesis can be tested or not

Since the human female in question is homozygous for one allele of the X-linked G6PD gene, the Lyon hypothesis cannot be adequately tested in this individual. This is because the X-inactivation will not produce an observable difference in the expression of the G6PD gene, as both X chromosomes carry the same allele.

Key concepts

X-chromosome Inactivation

X-chromosome inactivation is a cellular process specific to female mammals, including humans. This mechanism balances the dosage of X-linked gene products between males, who have one X chromosome, and females, who have two. Simply put, to maintain genetic balance, one of the two X chromosomes in each female cell shuts down early during development.

Think of it as a natural form of genetic fairness. Just as a set of scales balances weight, cells balance genetic expression. If both X chromosomes were active, females would have double the X chromosome gene products, potentially causing harmful effects. The inactive X chromosome forms a structure called a Barr body, which can be seen under a microscope in some cells. This inactivation is random in most cells, meaning either the mother’s or the father’s X chromosome can be silenced, leading to what’s known as a mosaic pattern of expression for X-linked genes.

G6PD Gene

The G6PD gene, short for glucose-6-phosphate dehydrogenase, plays a pivotal role in the body. This gene contains instructions for making an enzyme that’s crucial for protecting red blood cells from certain chemicals that can cause damage.

Given its location on the X chromosome, G6PD exhibits interesting patterns of inheritance and expression. As with any X-linked gene, its genetic behaviors are quite different from those hosted on non-sex chromosomes. When an individual is homozygous for a G6PD allele, they possess identical copies of this gene on both X chromosomes. This genetic scenario is important in understanding the Lyon hypothesis, as the presence of identical alleles on both chromosomes prevents us from observing the effects of X-chromosome inactivation.

Genetic Expression

Genetic expression refers to how the information within a gene is used to create a functional product, typically a protein. This process includes transcription, where DNA sequences are copied into mRNA, and translation, where mRNA sequences are used to assemble proteins.

In X-chromosome inactivation, the gene expression aspect is fascinating because it involves turning off an entire chromosome's worth of genes to equalize the amount of genetic material used between males and females. Because a gene on the active X chromosome can be expressed while its counterpart on the inactive X is not, the concept of genetic expression is central to understanding diseases that are linked to the X chromosome, their inheritance, and their manifestations in individuals.

X-linked Genes

X-linked genes are those located on the X chromosome. In mammals, this includes an array of genes that are critical for normal development and function. Unlike genes on autosomes (non-sex chromosomes), X-linked genes have a unique pattern of inheritance and expression due to the presence of one X chromosome in males (XY) and two in females (XX).

X-linked recessive diseases, for example, often manifest in males who have only one X chromosome. Females, on the other hand, must inherit two copies of the recessive allele, one on each X chromosome, to express the disease. However, due to X-chromosome inactivation, females who are heterozygous for a particular gene can have a blend of two types of cells - some expressing one allele, while others express the alternate allele. This leads to the aforementioned mosaic pattern of genetic expression.