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Sex chromosomes (also referred to as allosomes, heterotypical chromosome, gonosomes, heterochromosomes, [1] [2] or idiochromosomes [1] ) are chromosomes that carry the genes that determine the sex of an individual. The human sex chromosomes are a typical pair of mammal allosomes. They differ from autosomes in form, size, and behavior. Whereas autosomes occur in homologous pairs whose members have the same form in a diploid cell, members of an allosome pair may differ from one another.
Nettie Stevens and Edmund Beecher Wilson both independently discovered sex chromosomes in 1905. However, Stevens is credited for discovering them earlier than Wilson. [3]
In humans, each cell nucleus contains 23 pairs of chromosomes, a total of 46 chromosomes. The first 22 pairs are called autosomes. Autosomes are homologous chromosomes i.e. chromosomes which contain the same genes (regions of DNA) in the same order along their chromosomal arms. The 23rd pair of chromosomes are called allosomes. These consist of two X chromosomes in females, and an X chromosome and a Y chromosome in males. Females therefore have 23 homologous chromosome pairs, while males have 22. The X and Y chromosomes have small regions of homology called pseudoautosomal regions.
An X chromosome is always present as the 23rd chromosome in the ovum, while either an X or Y chromosome may be present in an individual sperm. [4] Early in female embryonic development, in cells other than egg cells, one of the X chromosomes is randomly and permanently partially deactivated: In some cells, the X chromosome inherited from the mother deactivates; in other cells, it is the X chromosome inherited from the father. This ensures that both sexes always have exactly one functional copy of an X chromosome in each body cell. The deactivated X chromosome is silenced by repressive heterochromatin that compacts the DNA and prevents expression of most genes. This compaction is regulated by PRC2 (Polycomb Repressive Complex 2). [5]
All diploid organisms with allosome-determined sex get half of their allosomes from each of their parents. In most mammals, females are XX, and can pass along either of their Xs; since males are XY they can pass along either an X or a Y. Females in such species receive an X chromosome from each parent while males receive an X chromosome from their mother and a Y chromosome from their father. It is thus the male's sperm that determines the sex of each offspring in such species.
However, a small percentage of humans have a divergent sexual development, known as intersex. This can result from allosomes that are neither XX nor XY. It can also occur when two fertilized embryo fuse, producing a chimera that might contain two different sets of DNA one XX and the other XY.[ citation needed ] It could also result from exposure, often in utero, to chemicals that disrupt the normal conversion of the allosomes into sex hormones and further into the development of either ambiguous outer genitalia or internal organs. [6]
There is a gene in the Y chromosome that has regulatory sequences that control genes that code for maleness, called the SRY gene. [7] This gene produces a testis-determining factor ("TDF"), which initiates testis development in humans and other mammals. The SRY sequence's prominence in sex determination was discovered when the genetics of sex-reversed XX men (i.e. humans who possess biological male-traits but actually have XX allosomes) were studied. After examination, it was discovered that the difference between a typical XX individual (traditional female) and a sex-reversed XX man was that the typical individuals lacked the SRY gene. It is theorized that in sex-reversed XX men, the SRY mistakenly gets translocated to an X chromosome in the XX pair during meiosis. [8]
Diverse mechanisms are involved in the determination of sex in animals. [9] For mammals, sex determination is carried by the genetic contribution of the spermatozoon. Many lower chordates, such as fish, amphibians and reptiles, have systems that are influenced by the environment. Fish and amphibians, for example, have genetic sex determination but their sex can also be influenced by externally available steroids and incubation temperature of eggs. [10] [11] In some reptiles, e.g. sea turtles, only the incubation temperature determines sex (temperature-dependent sex determination).
Many scientists argue that sex determination in plants is more complex than that in humans. This is because even flowering plants have a variety of mating systems, their sex determination primarily regulated by MADS-box genes. These genes code for proteins that form the sex organs in flowers. [12]
Plant sex chromosomes are most common in bryophytes, relatively common in vascular plants and unknown in ferns and lycophytes. [13] The diversity of plants is reflected in their sex-determination systems, which include XY and UV systems as well as many variants. Sex chromosomes have evolved independently across many plant groups. Recombination of chromosomes may lead to heterogamety before the development of sex chromosomes, or recombination may be reduced after sex chromosomes develop. [14] Only a few pseudoautosomal regions normally remain once sex chromosomes are fully differentiated. When chromosomes do not recombine, neutral sequence divergences begin to accumulate, which has been used to estimate the age of sex chromosomes in various plant lineages. Even the oldest estimated divergence, in the liverwort Marchantia polymorpha, is more recent than mammal or bird divergence. Due to this recency, most plant sex chromosomes also have relatively small sex-linked regions. Current evidence does not support the existence of plant sex chromosomes more ancient than those of M. polymorpha. [15]
The high prevalence of autopolyploidy in plants also impacts the structure of their sex chromosomes. Polyploidization can occur before and after the development of sex chromosomes. If it occurs after sex chromosomes are established, dosage should stay consistent between the sex chromosomes and autosomes, with minimal impact on sex differentiation. If it occurs before sex chromosomes become heteromorphic, as is likely in the octoploid red sorrel Rumex acetosella , sex is determined in a single XY system. In a more complicated system, the sandalwood species Viscum fischeri has X1X1X2X2 chromosomes in females, and X1X2Y chromosomes in males. [16]
Amplification of transposable elements, tandom repeats especially accumulation of long tandom repeats (LTR) retrotransposones are responsible for plant sex chromosome evolution. The insertion of retrotransposons is probably the major cause of y-chromosome expansion and plant genome size evolution. Retrotransposones contribute in size determination of sex chromosomes and its proliferation varies even in closely related species. LTR and tandom repeats play dominant role in the evolution of S. latifolia sex chromosomes. [17] Athila is new family of retroelements, discovered in Arabidopsis thaliana , present in heterochromatin region only. Athila retroelements overrepresented in X but absent in Y while tandem repeats enriched in Y-chromosome. Some chloroplast sequences have also been identified in the Y-chromosome of S. latifolia . S. vulgaris has more retroelements in their sex chromosomes compare to S. latifolia. Microsatellite data shows that there is no significant difference between X and Y-chromosome microsatellites in both Silene species. This would conclude that microsatellites do not participate in Y-chromosome evolution. The portion of Y-chromosome that never recombine with X-chromosome faces selection reduction. This reduced selection leads to insertion of transposable elements and accumulation of deleterious mutation. The Y become larger and smaller than X due to insertion of retroelement and deletion of genetic material respectively. The genus Humulus is also used as model for the study of sex chromosomes evolution. Based on the phylogenetic topology distribution there are three regions on sex chromosomes. One region that stops recombining in the ancestor of H. lupulus , second that stops recombining in modern H. lupulus and the third region called pseudoautosomal region. H. lupulus is the rare case in plants in which Y is smaller than X, while its ancestor plant has the same size of both X and Y chromosomes. This size difference should be caused by deletion of genetic material in Y but that is not the case. This is because of complex dynamics like the larger size of X than Y-chromosome may be due to duplication or retrotransposition and size of Y remains same. [18]
Ferns and lycophytes have bisexual gametophytes, so there is no evidence for sex chromosomes. [13] In the bryophytes, including liverworts, hornworts and mosses, sex chromosomes are common. The sex chromosomes in bryophytes affect what type of gamete is produced by the gametophyte, and there is wide diversity in gametophyte type. Unlike seed plants, where gametophytes are always unisexual, in bryophytes they may produce male, female, or both types of gamete. [19]
Bryophytes most commonly employ a UV sex-determination system, where U produces female gametophytes and V produces male gametophytes. The U and V chromosomes are heteromorphic with U larger than V and are frequently both larger than the autosomes. There is variation even within this system, including UU/V and U/VV chromosome arrangements. In some bryophytes, microchromosomes have been found to co-occur with sex chromosomes and likely impact sex determination. [19]
Dioecy is common among gymnosperms, found in an estimated 36% of species. However, heteromorphic sex chromosomes are relatively rare, with only five species known as of 2014. Five of these use an XY system, and one ( Ginkgo biloba ) uses a WZ system. Some gymnosperms, such as Johann's Pine ( Pinus johannis ), have homomorphic sex chromosomes that are almost indistinguishable through karyotyping. [16]
Cosexual angiosperms with either monoecious or hermaphroditic flowers do not have sex chromosomes. Angiosperms with separate sexes (dioecious) may use sex chromosomes or environmental flowers for sex determination. Cytogenetic data from about 100 angiosperm species showed heteromorphic sex chromosomes in approximately half, mostly taking the form of XY sex-determination systems. Their Y is typically larger, unlike in humans; however there is diversity among angiosperms. In the Poplar genus ( Populus ) some species have male heterogamety while others have female heterogamety. [15] Sex chromosomes have arisen independently multiple times in angiosperms, from the monoecious ancestral condition. The move from a monoecious to dioecious system requires both male and female sterility mutations to be present in the population. Male sterility likely arises first as an adaptation to prevent selfing. Once male sterility has reached a certain prevalence, then female sterility may have a chance to arise and spread. [13]
In the domesticated papaya ( Carica papaya ), three sex chromosomes are present, denoted as X, Y and Yh. This corresponds with three sexes: females with XX chromosomes, males with XY, and hermaphrodites with XYh. The hermaphrodite sex is estimated to have arisen only 4000 years ago, post-domestication of the plant. The genetic architecture suggests that either the Y chromosome has an X-inactivating gene, or that the Yh chromosome has an X-activating gene. [20]
Allosomes not only carry the genes that determine male and female traits, but also those for some other characteristics as well. Genes that are carried by either sex chromosome are said to be sex linked. Sex linked diseases are passed down through families through one of the X or Y chromosomes. Since usually men inherit Y chromosomes, they are the only ones to inherit Y-linked traits. Men and women can get the X-linked ones since both inherit X chromosomes. [21]
An allele is either said to be dominant or recessive. Dominant inheritance occurs when an abnormal gene from one parent causes disease even though the matching gene from the other parent is normal. The abnormal allele dominates. Recessive inheritance is when both matching genes must be abnormal to cause disease. If only one gene in the pair is abnormal, the disease does not occur, or is mild. Someone who has one abnormal gene (but no symptoms) is called a carrier. A carrier can pass this abnormal gene to his or her children. [22] X chromosome carry about 1500 genes, more than any other chromosome in the human body. Most of them code for something other than female anatomical traits. Many of the non-sex determining X-linked genes are responsible for abnormal conditions. The Y chromosome carries about 78 genes. Most of the Y chromosome genes are involved with essential cell house-keeping activities and sperm production. Only one of the Y chromosome genes, the SRY gene, is responsible for male anatomical traits. When any of the 9 genes involved in sperm production are missing or defective the result is usually very low sperm counts and infertility. [23] Examples of mutations on the X chromosome include more common diseases such as the following:
Other complications include:
Sex chromosomes evolve from standard pairs of autosomal chromosomes. [27] In a large number of organisms, the sex-determination systems presently observed are products of sex chromosome turnover. Sex chromosome turnover is a process defined as when the type of the sex chromosome changes as a product of a change in the identity of the sex-determining genes (such as by mutation) or by a change in their location. [28] In other cases, sex chromosomes may grow substantially with respect to their ancestral forms as a result of fusion events with autosomes, and autosome-sex chromosome fusions result in what are called neo-sex chromosomes. Five examples of this are now known in the songbird superfamily Sylvioidea. [29] There is one experimentally documented case of sex chromosome turnover occurring during a 30-year evolutionary experiment involving teleost fish (specifically the swordtails), in which hybridization experiments resulted in a translocation of the sex-determiner region of a sex chromosome into an autosome. This resulted in the autosome becoming a novel W sex chromosome. [30]
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA.
Sex is the biological trait that determines whether a sexually reproducing organism produces male or female gametes. During sexual reproduction, a male and a female gamete fuse to form a zygote, which develops into an offspring that inherits traits from each parent. By convention, organisms that produce smaller, more mobile gametes are called male, while organisms that produce larger, non-mobile gametes are called female. An organism that produces both types of gamete is hermaphrodite.
The XY sex-determination system is a sex-determination system used to classify many mammals, including humans, some insects (Drosophila), some snakes, some fish (guppies), and some plants.
A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. Most organisms that create their offspring using sexual reproduction have two common sexes and a few less common intersex variations.
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child. Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incomplete dominance, in which a gene variant has a partial effect compared to when it is present on both chromosomes, and co-dominance, in which different variants on each chromosome both show their associated traits.
The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. Along with the X chromosome, it is part of the XY sex-determination system, in which the Y is the sex-determining because it is the presence or absence of Y chromosome that determines the male or female sex of offspring produced in sexual reproduction. In mammals, the Y chromosome contains the SRY gene, which triggers development of male gonads. The Y chromosome is passed only from male parents to male offspring.
Haldane's rule is an observation about the early stage of speciation, formulated in 1922 by the British evolutionary biologist J. B. S. Haldane, that states that if — in a species hybrid — only one sex is inviable or sterile, that sex is more likely to be the heterogametic sex. The heterogametic sex is the one with two different sex chromosomes; in therian mammals, for example, this is the male.
Sex linked describes the sex-specific reading patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness.
Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals. SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.
Dosage compensation is the process by which organisms equalize the expression of genes between members of different biological sexes. Across species, different sexes are often characterized by different types and numbers of sex chromosomes. In order to neutralize the large difference in gene dosage produced by differing numbers of sex chromosomes among the sexes, various evolutionary branches have acquired various methods to equalize gene expression among the sexes. Because sex chromosomes contain different numbers of genes, different species of organisms have developed different mechanisms to cope with this inequality. Replicating the actual gene is impossible; thus organisms instead equalize the expression from each gene. For example, in humans, female (XX) cells randomly silence the transcription of one X chromosome, and transcribe all information from the other, expressed X chromosome. Thus, human females have the same number of expressed X-linked genes per cell as do human males (XY), both sexes having essentially one X chromosome per cell, from which to transcribe and express genes.
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
Male is the sex of an organism that produces the gamete known as sperm, which fuses with the larger female gamete, or ovum, in the process of fertilisation. A male organism cannot reproduce sexually without access to at least one ovum from a female, but some organisms can reproduce both sexually and asexually. Most male mammals, including male humans, have a Y chromosome, which codes for the production of larger amounts of testosterone to develop male reproductive organs.
XX male syndrome, also known as de la Chapelle syndrome, is a rare condition in which an individual with a 46,XX karyotype develops a male phenotype. Synonyms for XX male syndrome include 46,XX testicular difference of sex development
In embryology, the genital ridge is the developmental precursor to the gonads. The genital ridge initially consists mainly of mesenchyme and cells of underlying mesonephric origin. Once oogonia enter this area they attempt to associate with these somatic cells. Development proceeds and the oogonia become fully surrounded by a layer of cells.
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics.
Sexual differentiation in humans is the process of development of sex differences in humans. It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. Sexual differentiation includes development of different genitalia and the internal genital tracts and body hair plays a role in sex identification.
The science of rosy-faced lovebird colour genetics deals with the heredity of colour variation in the feathers of the species known as Agapornis roseicollis, commonly known as the rosy-faced lovebird or peach-faced lovebird.
A hereditary carrier, is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait.
46,XX/46,XY is a chimeric genetic condition characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype in a single human being. The cause of the condition lies in conception or utero with the aggregation of two distinct zygotes or blastocysts into a single embryo, which subsequently leads to the development of a single individual with two distinct cell lines, instead of a pair of fraternal twins. 46,XX/46,XY chimeras are the result of the merging of two non-identical twins. This is not to be confused with mosaicism or hybridism, neither of which are chimeric conditions, but is considered as an intersex condition.
Silene is a flowering plant genus that has evolved a dioecious reproductive system. This is made possible through heteromorphic sex chromosomes expressed as XY. Silene recently evolved sex chromosomes 5-10 million years ago and are widely used by geneticists and biologists to study the mechanisms of sex determination since they are one of only 39 species across 14 families of angiosperm that possess sex-determining genes. Silene are studied because of their ability to produce offspring with a plethora of reproductive systems. The common inference drawn from such studies is that the sex of the offspring is determined by the Y chromosome.