Sex Chromosomes and Sex Determination

Sex Determination

The mechanism by which sex is established is termed Sex Determination Most sexual organisms have two sexes. In many cases, sex determination is genetic: males and females have different alleles or even different genes that specify their sexual morphology.

Sex Determination

There are many ways in which sex differences arise. In some species, both sexes are present in the same individual, a condition termed hermaphroditism; organisms that bear both male and female reproductive structures are said to be monoecious (meaning one house). Species in which an individual has either male or female reproductive structures are said to be dioecious (meaning two houses).

Sex Determination

Humans are dioecious. Among dioecious species, the sex of an individual may be determined chromosomally, genetically. In other cases, sex is determined by environmental variables (such as temperature) or social variables (the size of an organism relative to other members of its population).

What are sex chromosomes?

Sex chromosomes are usually one pair of chromosomes that are the same in one sex but different in the other, and are believed to carry factors that determine the sex of the carrier.

Sex Chromosomes

Males and females have equal numbers of autosomes but

males have one X chromosome and one Y chromosome, and females have two X chromosomes

The sex with two different sex chromosomes is called the heterogametic sex, and the other, with two of the same sex chromosomes, is the homogametic sex.

Chromosomal Sex-Determining Systems

In 1891, H. Henking noticed a peculiar structure in the nuclei of cells from male insects. Understanding neither its function nor its relation to sex, he called this structure the X body. Later, Clarence E.McClung recognized that it was a chromosome and called it the accessory chromosome, but eventually it became known as the X chromosome. McClung observed that the cells of female grasshoppers had one more chromosome than the cells of male grasshoppers, and he concluded that accessory chromosomes played a role in sex determination.

Chromosomal Sex-Determining Systems

In 1905, N. Stevens and E.Wilson demonstrated that, in grasshoppers and other insects, the cells of females have two X chromosomes, whereas the cells of males have a single X. Stevens and Wilson also showed that the X and Y chromosomes separate into different cells in sperm formation; half of the sperm receive an X chromosome and half receive a Y. All egg cells produced by the female in meiosis receive one X chromosome. A sperm containing a Y chromosome unites with an X-bearing egg to produce an XY male, whereas a sperm containing an X chromosome unites with an X-bearing egg to produce an XX female This accounts for the 50:50 sex ratio observed in most dioecious organisms

XX-XY Sex determination

In many species, the cells of males and females have the same number of chromosomes, but
the cells of females have two X chromosomes (XX) and the cells of males have a single X chromosome and a smaller sex chromosome called the Y chromosome (XY).

In humans and many other organisms, the Y chromosome is acrocentric not Y shaped as is commonly assumed.

XX-XY Sex determination

In this type of sex-determining system,

Male is the heterogametic sexXY. Female is the homogametic sex XX

Many organisms, including some plants, insects, and reptiles, and all mammals (including humans), have the XX-XY sexdetermining system. Although the X and Y chromosomes are not generally homologous, they do pair and segregate into different cells in meiosis.

XX-XY Sex determination

They can pair because these chromosomes are homologous at small regions called the pseudoautosomal regions in which they carry the same genes. Genes found in these regions will display the same pattern of inheritance as that of genes located on autosomal chromosomes. In humans, there are pseudoautosomal regions at both tips of the X and Y chromosomes

ZZ-ZW Sex Determination

The ZW sex-determination system is reversed compared to the XY system The female is heterogametic and the male is homogametic.
Females have two different kinds of chromosomes (ZW), and Males have two of the same kind of chromosomes (ZZ)

ZZ-ZW Sex Determination

Females in this system are ZW; after meiosis, half of the eggs have a Z chromosome and the other half have a W. Males are ZZ; all sperm contain a single Z chromosome. The ZZ-ZW system is found in birds, moths, some amphibians, and some fishes.

XX-XO Sex Determination

Females have two copies of the sex chromosomes (XX). But Males have only one sex chromosome (XO). The O denotes the absence of a second sex chromosome. Male is XO and heterogametic, and Female is XX and homogametic.

XX-XO Sex Determination

Males produce two different types of gametes with respect to the sex chromosomes, they are said to be the heterogametic sex. Females, which produce gametes that are all the same with respect to the sex chromosomes, are the homogametic sex. X-bearing sperm unite with X-bearing eggs to produce XX zygotes, which eventually develop as females. Sperm lacking an X chromosome unite with Xbearing eggs to produce XO zygotes, which develop into males.

XX-XO Sex Determination

This system is observed in a number of insects, including the grasshoppers and crickets of order Orthoptera and in cockroaches (order Blattodea). The nematode C. elegans male with one sex chromosome (XO); with a pair of chromosomes (XX) it is a hermaphrodite.

Haplodiploidy

Some insects in the order Hymenoptera (bees, wasps, and ants) have no sex chromosomes; instead, sex is based on the number of chromosome sets found in the nucleus of each cell. Unfertilized eggs develop into haploid individuals, which are the males. Diploid individuals are generally female but may be sterile males. The cells of male hymenopterans possess only a single set of chromosomes inherited from the mother.

Haplodiploidy

In contrast, the cells of females possess two sets of chromosomes, one set inherited from the mother and the other set from the father.

Haplodiploidy

When both parents are diploid, siblings on average have half their genes in common because they have a 50% chance of receiving the same allele from each parent. In these insects, males produce sperm by mitosis (they are already haploid); so all offspring receive the same set of paternal genes. The diploid females produce eggs by normal meiosis. Therefore, sisters have a 50% chance of receiving the same allele from their mother and a 100% chance of receiving the same allele from their father; the average relatedness between sisters is therefore 75%.

Haplodiploidy

Brothers have a 50% chance of receiving the same copy of each of their mothers two alleles at any particular locus; so their average relatedness is only 50%. The greater genetic relatedness among female siblings in insects with haplodiploid sex determination may contribute to the high degree of social cooperation that exists among females (the workers) of these insects.

Genic Sex-Determining Systems

In some plants and protozoans, sex is genetically determined, but there are no obvious differences in the chromosomes of males and femalesthere are no sex chromosomes. These organisms have genic sex determination; genotypes at one or more loci determine the sex of an individual.

Genic Sex-Determining Systems

It is important to understand that, even in chromosomal sex-determining systems, sex is actually determined by individual genes. For example, in mammals, a gene (SRY) located on the Y chromosome determines the male phenotype. In both genic sex determination and chromosomal sex determination, sex is controlled by individual genes; the difference is that, with chromosomal sex determination, the chromosomes that carry those genes appear different in males and females.

Non-genetic sex-determination systems

In some species of reptiles, including alligators, some turtles, and the tuatara (fish), sex is determined by the temperature at which the egg is incubated. Temp. between 22.5 and 27 C mostly male turtles arise and at warmer temperatures around 30 C only female turtles arise. In lizards and crocodilians, this pattern is reversed. Some species, such as some snails, practice sex change: adults start out male, then become female.

Non-genetic sex-determination systems

In tropical clown fish, the dominant individual in a group becomes female while the other ones are male, and blue wrasse fish are the reverse. In Bonellia viridis (marine worm), larvae become males if they make physical contact with the female, and females if they end up on soil.

Bonellia viridis (adult female)

Environmental Sex Determination

Marine mollusk Crepidula fornicata : This type of sexual development is called sequential hermaphroditism; each individual animal can be both male and female, although not at the same time.

Sex Determination and Sex Differentiation in Humans

Sex Determination & Sex differentiation

The mechanism by which sex is established is termed Sex Determination Sex differentiation is a series of consecutive developmental processes during early embryogenesis resulting in either the female or the male gender. Initially all anatomical structures involved are undifferentiated. Under the influence of various genes they develop into either sex.

Human Y Chromosome

Human Y chromosome

Y chromosome contains far fewer genes than the X chromosomes. Present on both ends of the Y chromosome are the so-called Pseudautosomal regions (PARs) that share homology with regions on the X chromosome and which synapse and recombine with it during meiosis. The presence of such a pairing region is critical to segregation of the X and Y chromosomes during male gametogenesis.

Human Y chromosome

The remainder of the chromosome about 95%, does not synapse or re-combine with the X chromosomc. As a result. it was originally referred to as the nonrecombining region of the Y (NRY). More recently, researchers have designated this region as the male- specific region of the Y (MSY). Some portions of the MSY share homology with genes on the X chromosome and some do not. MSY is divided about equally between euchromatic regions containing functional genes and heterochromatic regions lacking genes.

Human Y chromosome

Within euchromatin, adjacent to the PAR of the short arm of the Y chromosome, is a critical gene that controls male sexual development called the sexdetermining region of the Y (SRY). In humans the absence of a Y chromosome almost always leads to female development, thus this gene is absent from the X chromosome. SRY encodes a gene product that somehow triggers the undifferentiated gonadal tissue of the embryo to form testes.

Human Y chromosome

This product is called the testis-determining factor (TDF). The SRY gene encodes a protein that binds to DNA and causes a sharp bend in the molecule.

(HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species.)

This alteration of DNA structure may affect the expression of other genes that encode testis formation. Although SRY is the primary determinant of maleness in humans, other genes (some X linked, others Y linked, and still others autosomal) also play a role in fertility and the development of sex differences.

Sexual Differentiation in Humans

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--During early embryonic development, every human embryo undergoes a period when it is potentially hermaphroditic. -- By the 5th week of gestation, gonadal primordial tissue arise as a pair of ridges associated with each embyronic kidney. --Primordial germ cells migrate to these ridges where an outer cortex (capable of developing into an ovary) and an inner medulla (capable of developing into a testis) form.

Sexual Differentiation in Humans

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--Additionally, two sets of undifferentiated male (Wolffian) and female (Mullerian) ducts exist within each embryo. --If the cells of the genital ridge have the XY constitution, development of the medullary region into testis is initiated around the 7th week. (TDF resposible) --Once testis differentiation is initiated, embryonic testicular tissue secretes two hormones essential for continued male sexual development (Testosterone & anti- Mullerian hormone).

Sexual Differentiation in Humans

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--In the absence of a Y-chromosome, the cortex of the genital ridge forms ovarian tissue. --In the absence of male development, about the 12th week of fetal development, the oogonia within the ovaries begin meiosis and primary oocytes can be detected. --By the 25th week of gestation, all oocytes become arrested in meiosis and remain dormant until puberty is reach 10 to 15 years later. -- In males, primary spermatocytes are not produced until puberty is reached.

Turner syndrome (XO)

Persons who have Turner syndrome are female (45,X) They do not undergo puberty and their female secondary sex characteristics remain immature This syndrome is seen in 1 of 3000 female births. Affected women are frequently short and have a low hairline, a relatively broad chest, and folds of skin on the neck

Turner syndrome (XO)

Most women who have Turner syndrome are sterile. There are no known cases in which a person is missing both X chromosomes, an indication that at least one X chromosome is necessary for human development. Presumably, embryos missing both Xs are spontaneously aborted in the early stages of development.

Klinefelter syndrome

Frequency of about 1 in 1000 male births, Cells with one or more Y chromosomes and multiple X chromosomes. The cells of most males having this condition are XXY, but cells of a few Klinefelter males are XXXY, XXXXY, or XXYY.

Klinefelter syndrome

Persons with this condition, though male, frequently have underdeveloped testes, some breast enlargement, and reduced facial hair. They are often taller than normal and sterile; most have normal intelligence. Both conditions result from non-disjunction of the X-chromosome during meiosis.

Poly-X females

In about 1 in 1000 female births, the childs cells possess three X chromosomes, a condition often referred to as triplo-X syndrome. These persons have no distinctive features other than a tendency to be tall and thin. Although a few are sterile, many menstruate regularly and are fertile.

Poly-X females

The incidence of mental retardation among triple-X females is slightly greater than in the general population, but most XXX females have normal intelligence. The severity of mental retardation increases as the number of X chromosomes increases beyond three. In many cases, presence of additional X chromosome disrupts the delicate balance of genetic information necessary to normal female development.

Androgen-insensitivity syndrome

Testosterone produced by the fetal testes can only exert its effect if it binds to an intracellular receptor, the androgen receptor Likewise, dihydrotestosterone (DHT), converted from testosterone in the urogenital sinus by 5-reductase, requires this receptor. The activated hormone receptor complex (TR and DR) acts as a transcription factor for genes that regulate the differentiation of the Wolffian ducts and the urogenital sinus.

Androgen-insensitivity syndrome

Mutations in the androgen receptor result in androgen insensitivity. Affected XY individuals have the SRY gene and testes, and they produce testosterone. But since testosterone cannot exert any effect, the resulting phenotype is female This variable condition is the androgen insensitivity syndrome, also called testicular feminization. The gene for the androgen receptor is located on the X chromosome; so persons with this condition always inherit it from their mothers.