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Sex Chromosomes: Roles, Structure & Significance

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How Sex Chromosomes Influence Gender Determination and Genetics

Human sex chromosomes is a chromosome that varies in shape, size, and behaviour from an ordinary autosome. According to sex chromosomes definition, the sex of a person produced by sexual reproduction is determined by the human sex chromosomes, which are a normal pair of mammalian allosomes. Allosomes, heterotypical chromosomes, heterochromosomes, and idiochromosomes are words used to describe them.

According to sex chromosomes definition, Autosomes vary from allosomes in that they occur in pairs with members that possess the same shape but differentiate from many other groups in a diploid cell, while allosome pairs can differ and thus decide sex.

In 1905, Nettie Stevens and Edmund Beecher Wilson identified sex chromosomes individually.


Female Chromosome Symbol


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Male Chromosome Symbol


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Differentiation

How many sex chromosomes do humans have?

The answer to the question ‘how many sex chromosomes does humans have’ is that each nucleus of a human cell comprises 23 chromosomes pair, for a total of 46. Autosomes are the first 22 pairs of chromosomes. These are homologous chromosomes, meaning that they have the very same genes (DNA regions) in much the same sequence in their chromosomal sides.

Allosomes are the chromosomes of the 23rd pair, which in most females have two X chromosomes and most males have an X chromosome and a Y chromosome. Females possess 23 pairs of homologous chromosomes, whereas males have 22 pairs. 

Pseudoautosomal regions are small homologous regions mostly on X and Y chromosomes.

Throughout the ovum, the X chromosome is often identified as the 23rd chromosome, whereas a particular sperm can have perhaps an X or a Y chromosome.

One of several X chromosomes become spontaneously and permanently partially deactivated in cells apart from egg cells, in the early phase of the female development of embryo: in certain cells, the X chromosome which is inherited from the (female)mother tends to be disabled, whereas, in other, the X chromosome which is inherited from the male (father) is deactivated.

This means that each cell in the body of both sexes contains precisely a single functional and usable copy of the X chromosome. Repressive heterochromatin, which compresses the DNA and inhibits certain genes from expressing, silences the deactivated X-chromosome. PRC2 is in charge of compaction (Polycomb Repressive Complex 2).


Sex Determination

Each one of the parents supplies half of the allosomes among all diploid species with allosome-determined sex. Females are XX in mammals, and they can carry on any of their Xs, whereas males are XY and therefore can carry on perhaps an X or a Y.

A mammal should therefore obtain an X chromosome through both parents towards being a female, while a male should obtain an X chromosome from their mother as well as a Y chromosome from their father towards being male. In mammals, the sex within each offspring is therefore determined by the sperm of the male.

However, a significant number of humans grow sexually differently, a disorder defined as intersex. Allosomes which are neither XX nor XY will cause this. It may also happen when two fertilised embryos combine, resulting in a chimaera with two separate sets of DNA, namely XX and the other XY.

It may also be triggered by prenatal exposure to toxic chemicals which interrupt the usual processing of allosomes to sex hormones, leading to the production of unclear outer genitalia or major organs.


Medical Applications

Allosomes include not just the genes which decide male and female traits, as well as those which establish a number of many other characteristics. Sex-related genes are those that are borne on both sexes' chromosomes. Through the use of either of the X or Y chromosomes, sex-related disorders are inherited from parents to their of.

Men have been the only ones that inherit Y-linked traits although they generally possess Y chromosomes. Because both males and females have X chromosomes, they could get the X-linked ones. An allele is said to have been dominant or recessive depending on whether it is dominant or recessive. Whenever an abnormal gene through one parent specifically targets while the matching gene from the other parent is regular, this is known as dominant inheritance. The abnormal allele has the upper hand. To cause disease, both corresponding genes must be defective in recessive inheritance. If only one of the two genes in a set is abnormal, the disorder is either not present or is mild.

  • Colour blindness, also known as colour vision disorder, is the failure or diminished ability to see the colour or differentiate between colours under ordinary light levels. Colour blindness impacts a significant proportion of the population. There seems to be no real blindness, although there is a colour vision issue.

  • Hemophilia is a category of bleeding conditions wherein the blood takes some time to clot. X-linked recessive is the term for this type of recessive gene. Since males are hemizygous, haemophilia is far more common in men than in women. They have only a single copy of the gene in issue, however, when they possess a single mutant allele, they tend to display the trait.

  • Fragile X syndrome is a disorder characterised by variations in the X chromosome. Inherited intellectual disability (mental retardation) in males is the most common type. It's caused by a mutation in the FMR1 gene. On a delicate segment of the X chromosome, a small portion of the gene code is replicated. The higher the number of repeats, the more likely there is a problem.

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FAQs on Sex Chromosomes: Roles, Structure & Significance

1. What are sex chromosomes in biology?

Sex chromosomes are a specific pair of chromosomes in an organism that determine its biological sex. In humans, there is one pair of sex chromosomes out of the total 23 pairs. These are also known as allosomes, distinguishing them from the other 22 pairs, which are called autosomes and control non-sex-related traits.

2. How many sex chromosomes do humans have?

Humans have two sex chromosomes, which make up one pair. A common misconception is that there are 23 pairs of sex chromosomes; however, humans have a total of 23 pairs of chromosomes, with only the 23rd pair being the sex chromosomes (either XX or XY). The first 22 pairs are autosomes.

3. How do X and Y chromosomes determine sex in humans?

Sex determination in humans is primarily controlled by the Y chromosome. The presence of a Y chromosome leads to male development, while its absence leads to female development. This is because the Y chromosome contains a crucial gene called the SRY gene (Sex-determining Region Y).

  • XY Combination: The SRY gene on the Y chromosome triggers the development of testes, leading to a biological male.
  • XX Combination: In the absence of the SRY gene, the gonads develop into ovaries, leading to a biological female.
Therefore, it's the presence or absence of the Y chromosome's SRY gene that is the key determining factor.

4. What is the main difference between an X and a Y chromosome?

The X and Y chromosomes differ significantly in size, shape, and the genetic information they carry.

  • Size and Gene Count: The X chromosome is much larger and contains over 1,000 genes essential for various bodily functions, not just sex-related ones.
  • Role of the Y Chromosome: The Y chromosome is smaller, containing fewer than 100 genes, with its primary function being sex determination through the SRY gene.
  • Homology: While they pair up during meiosis, they are not fully homologous (identical in structure), unlike autosomal pairs.

5. Is the XX-XY system of sex determination the only one in nature? Explain with examples.

No, the XX-XY system is not universal. Different species have evolved different mechanisms for sex determination, as seen in the CBSE syllabus. Key examples include:

  • ZW-ZZ System (Birds): In birds, reptiles, and some insects, the female is heterogametic (ZW) and the male is homogametic (ZZ). Here, the ovum determines the sex of the offspring.
  • XX-XO System (Insects): In some insects like grasshoppers, females have two X chromosomes (XX), while males have only one (XO). The 'O' signifies the absence of a second sex chromosome.
  • Haplodiploidy (Honeybees): In honeybees, sex is determined by the number of chromosome sets. Females (queen and workers) develop from fertilised eggs and are diploid (32 chromosomes), while males (drones) develop from unfertilised eggs and are haploid (16 chromosomes).

6. What is the importance of sex chromosomes beyond just determining sex?

The importance of sex chromosomes, particularly the X chromosome, extends far beyond sex determination. The X chromosome is large and carries hundreds of genes that are vital for both males and females. These genes are involved in processes like blood clotting (e.g., Factor VIII gene, linked to hemophilia), muscle function (e.g., dystrophin gene, linked to muscular dystrophy), and brain development. A defect in one of these X-linked genes can cause genetic disorders.

7. Is it possible for a person with XY chromosomes to be biologically female?

Yes, it is possible for an individual with an XY karyotype to develop as a female. This can occur due to specific genetic conditions, most notably Androgen Insensitivity Syndrome (AIS). In AIS, the body's cells are unable to respond to androgens (male hormones) like testosterone, which are produced by the testes. Despite having a Y chromosome and producing testosterone, the male developmental pathway is not activated, leading to the development of female external characteristics.

8. What happens if a person has an abnormal number of sex chromosomes, like XXY or XO?

An abnormal number of sex chromosomes results from an error during cell division called non-disjunction, leading to genetic disorders. Two common examples are:

  • Klinefelter's Syndrome (XXY): An individual has an extra X chromosome. These individuals are biologically male but often have characteristics such as underdeveloped testes, reduced fertility, and some female secondary sexual characteristics.
  • Turner's Syndrome (XO): An individual has only one X chromosome. These individuals are biologically female but are sterile as their ovaries are rudimentary. They often have short stature and other specific physical features.

9. Can a human exist with a YY chromosome combination?

No, a human zygote with a YY chromosome combination is non-viable and cannot develop. The X chromosome contains essential genes necessary for basic cellular functions and embryonic development. Since a YY zygote would lack an X chromosome entirely, it would not have the genetic information required to survive the earliest stages of development and would fail to implant or develop.