Homologs
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Homologous chromosomes or homologs are a set of one maternal and one paternal
chromosome A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most import ...
that pair up with each other inside a cell during
meiosis Meiosis () is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, the sperm or egg cells. It involves two rounds of division that ultimately result in four cells, each with only one c ...
. Homologs have the same
gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
s in the same loci, where they provide points along each chromosome that enable a pair of chromosomes to align correctly with each other before separating during
meiosis Meiosis () is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, the sperm or egg cells. It involves two rounds of division that ultimately result in four cells, each with only one c ...
. This is the basis for
Mendelian inheritance Mendelian inheritance (also known as Mendelism) is a type of biological inheritance following the principles originally proposed by Gregor Mendel in 1865 and 1866, re-discovered in 1900 by Hugo de Vries and Carl Correns, and later popularize ...
, which characterizes inheritance patterns of genetic material from an
organism An organism is any life, living thing that functions as an individual. Such a definition raises more problems than it solves, not least because the concept of an individual is also difficult. Many criteria, few of them widely accepted, have be ...
to its offspring parent developmental cell at the given time and area.


Overview

Chromosomes are linear arrangements of condensed
deoxyribonucleic acid Deoxyribonucleic acid (; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of a ...
(DNA) and
histone In biology, histones are highly basic proteins abundant in lysine and arginine residues that are found in eukaryotic cell nuclei and in most Archaeal phyla. They act as spools around which DNA winds to create structural units called nucleosomes ...
proteins, which form a complex called
chromatin Chromatin is a complex of DNA and protein found in eukaryote, eukaryotic cells. The primary function is to package long DNA molecules into more compact, denser structures. This prevents the strands from becoming tangled and also plays important r ...
. Homologous chromosomes are made up of chromosome pairs of approximately the same length,
centromere The centromere links a pair of sister chromatids together during cell division. This constricted region of chromosome connects the sister chromatids, creating a short arm (p) and a long arm (q) on the chromatids. During mitosis, spindle fiber ...
position, and staining pattern, for genes with the same corresponding loci. One homologous chromosome is inherited from the organism's mother; the other is inherited from the organism's father. After
mitosis Mitosis () is a part of the cell cycle in eukaryote, eukaryotic cells in which replicated chromosomes are separated into two new Cell nucleus, nuclei. Cell division by mitosis is an equational division which gives rise to genetically identic ...
occurs within the daughter cells, they have the correct number of genes which are a mix of the two parents' genes. In
diploid Ploidy () is the number of complete sets of chromosomes in a cell, and hence the number of possible alleles for autosomal and pseudoautosomal genes. Here ''sets of chromosomes'' refers to the number of maternal and paternal chromosome copies, ...
(2n) organisms, the genome is composed of one set of each homologous chromosome pair, as compared to tetraploid organisms which may have two sets of each homologous chromosome pair. The
allele An allele is a variant of the sequence of nucleotides at a particular location, or Locus (genetics), locus, on a DNA molecule. Alleles can differ at a single position through Single-nucleotide polymorphism, single nucleotide polymorphisms (SNP), ...
s on the homologous chromosomes may be different, resulting in different phenotypes of the same genes. This mixing of maternal and paternal traits is enhanced by crossing over during
meiosis Meiosis () is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, the sperm or egg cells. It involves two rounds of division that ultimately result in four cells, each with only one c ...
, wherein lengths of chromosomal arms and the DNA they contain within a homologous chromosome pair are exchanged with one another.


History

Early in the 1900s,
William Bateson William Bateson (8 August 1861 – 8 February 1926) was an English biologist who was the first person to use the term genetics to describe the study of heredity, and the chief populariser of the ideas of Gregor Mendel following their rediscover ...
and Reginald Punnett were studying genetic
inheritance Inheritance is the practice of receiving private property, titles, debts, entitlements, privileges, rights, and obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Offi ...
and they noted that some combinations of alleles appeared more frequently than others. That data and information was further explored by Thomas Morgan. Using test cross experiments, he revealed that, for a single parent, the alleles of genes near to one another along the length of the chromosome move together. Using this logic he concluded that the two genes he was studying were located on homologous chromosomes. Later on during the 1930s,
Harriet Creighton Harriet Baldwin Creighton (June 27, 1909 – January 9, 2004) was an American botanist, geneticist and educator. She worked with Barbara McClintock on cytogenetics in the 1930s, and was elected president of the Botanical Society of America in 1 ...
and
Barbara McClintock Barbara McClintock (June 16, 1902 – September 2, 1992) was an American scientist and cytogenetics, cytogeneticist who was awarded the 1983 Nobel Prize in Physiology or Medicine. McClintock received her PhD in botany from Cornell University ...
were studying meiosis in corn cells and examining gene loci on corn chromosomes. Creighton and McClintock discovered that the new allele combinations present in the offspring and the event of crossing over were directly related. This proved interchromosomal genetic recombination.


Structure

Homologous chromosomes are pairs of chromosomes in a diploid organism that have similar genes, although not necessarily identical. There are two main properties of homologous chromosomes: 1) the length of chromosomal arms and 2) the placement of the centromere. The actual length of the arm, in accordance with the gene locations, is critically important for proper alignment. Centromere placement on the chromosome can be characterized by four main arrangements, either metacentric,
submetacentric The centromere links a pair of sister chromatids together during cell division. This constricted region of chromosome connects the sister chromatids, creating a short arm (p) and a long arm (q) on the chromatids. During mitosis, spindle fibers ...
,
acrocentric The centromere links a pair of sister chromatids together during cell division. This constricted region of chromosome connects the sister chromatids, creating a short arm (p) and a long arm (q) on the chromatids. During mitosis, spindle fibers ...
, or telocentric. Both of these properties (i.e., the length of chromosomal arms, and the placement of the chromosomal centromere) are the main factors for creating structural homology between chromosomes. Therefore, when two chromosomes containing the relatively same structure exist (e.g., maternal chromosome 15 and paternal chromosome 15), they are able to pair together via the process of synapsis to form homologous chromosomes. Since homologous chromosomes are not identical and do not originate from the same organism, they are different from
sister chromatids A sister chromatid refers to the identical copies ( chromatids) formed by the DNA replication of a chromosome, with both copies joined together by a common centromere. In other words, a sister chromatid may also be said to be 'one-half' of the du ...
. Sister chromatids result after
DNA replication In molecular biology, DNA replication is the biological process of producing two identical replicas of DNA from one original DNA molecule. DNA replication occurs in all life, living organisms, acting as the most essential part of heredity, biolog ...
has occurred, and thus are identical, side-by-side duplicates of each other.


In humans

Humans Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing ...
have a total of 46 chromosomes, but there are only 22 pairs of homologous
autosomal 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 (sex chromosome) pairs, which may have different structures. The DNA in autosome ...
chromosomes. The additional 23rd pair is the sex chromosomes, X and Y. Note that the pair of sex chromosomes may or may not be homologous, depending on the sex of the individual. For instance, females contain XX, thus have a homologous pair of sex chromosomes. This means that females have 23 pairs of homologous chromosomes in total (i.e., 22 pairs of non-sex chromosomes (autosomes), 1 pair of sex chromosomes). Conversely, males contain XY, which means that they have a non-homologous pair of sex chromosomes as their 23rd pair of chromosomes. In humans, the 22 pairs of homologous autosomal chromosomes contain the same genes but code for different traits in their allelic forms, as one was inherited from the mother and one from the father. So, humans have two sets of 23 chromosomes in each cell that contains a nucleus. One set of 23 chromosomes (n) is from the mother (22 autosomes, 1 sex chromosome (X only)) and one set of 23 chromosomes (n) is from the father (22 autosomes, 1 sex chromosome (X or Y)). Ultimately, this means that humans are
diploid Ploidy () is the number of complete sets of chromosomes in a cell, and hence the number of possible alleles for autosomal and pseudoautosomal genes. Here ''sets of chromosomes'' refers to the number of maternal and paternal chromosome copies, ...
(2n) organisms.


Functions

Homologous chromosomes are important in the processes of meiosis and mitosis. They allow for the recombination and random segregation of genetic material from the mother and father into new cells.


In meiosis

Meiosis is a round of two cell divisions that results in four haploid daughter cells that each contain half the number of chromosomes as the parent cell. It reduces the chromosome number in a
germ cell A germ cell is any cell that gives rise to the gametes of an organism that reproduces sexually. In many animals, the germ cells originate in the primitive streak and migrate via the gut of an embryo to the developing gonads. There, they unde ...
by half by first separating the homologous chromosomes in
meiosis I Meiosis () is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, the sperm or egg cells. It involves two rounds of division that ultimately result in four cells, each with only one co ...
and then the sister chromatids in meiosis II. The process of meiosis I is generally longer than meiosis II because it takes more time for the chromatin to replicate and for the homologous chromosomes to be properly oriented and segregated by the processes of pairing and
synapsis Synapsis or Syzygy is the pairing of two chromosomes that occurs during meiosis. It allows matching-up of homologous pairs prior to their segregation, and possible chromosomal crossover between them. Synapsis takes place during prophase I of me ...
in meiosis I. During meiosis, genetic recombination (by random segregation) and crossing over produces daughter cells that each contain different combinations of maternally and paternally coded genes. This recombination of genes allows for the introduction of new allele pairings and genetic variation.
Genetic variation Genetic variation is the difference in DNA among individuals or the differences between populations among the same species. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources ...
among organisms helps make a population more stable by providing a wider range of genetic traits for
natural selection Natural selection is the differential survival and reproduction of individuals due to differences in phenotype. It is a key mechanism of evolution, the change in the Heredity, heritable traits characteristic of a population over generation ...
to act on.


Prophase I

In prophase I of meiosis I, each chromosome is aligned with its homologous partner and pairs completely. In prophase I, the DNA has already undergone replication so each chromosome consists of two identical chromatids connected by a common centromere. During the zygotene stage of prophase I, the homologous chromosomes pair up with each other. This pairing occurs by a synapsis process where the
synaptonemal complex The synaptonemal complex (SC) is a protein structure that forms between homologous chromosomes (two pairs of sister chromatids) during meiosis and is thought to mediate synapsis and recombination during prophase I during meiosis in eukaryotes ...
– a protein scaffold – is assembled and joins the homologous chromosomes along their lengths.
Cohesin Cohesin is a protein complex that mediates Establishment of sister chromatid cohesion, sister chromatid cohesion, homologous recombination, and Topologically associating domain, DNA looping. Cohesin is formed of SMC3, SMC1A, SMC1, RAD21, SCC1 an ...
crosslinking occurs between the homologous chromosomes and helps them resist being pulled apart until
anaphase Anaphase () is the stage of mitosis after the process of metaphase, when replicated chromosomes are split and the newly-copied chromosomes (daughter chromatids) are moved to opposite poles of the cell. Chromosomes also reach their overall maxim ...
. Genetic crossing-over, a type of recombination, occurs during the pachytene stage of prophase I. In addition, another type of recombination referred to as synthesis-dependent strand annealing (SDSA) frequently occurs. SDSA recombination involves information exchange between paired homologous
chromatid A chromatid (Greek ''khrōmat-'' 'color' + ''-id'') is one half of a duplicated chromosome. Before replication, one chromosome is composed of one DNA molecule. In replication, the DNA molecule is copied, and the two molecules are known as chrom ...
s, but not physical exchange. SDSA recombination does not cause crossing-over. In the process of crossing-over, genes are exchanged by the breaking and union of homologous portions of the chromosomes' lengths. Structures called chiasmata are the site of the exchange. Chiasmata physically link the homologous chromosomes once crossing over occurs and throughout the process of chromosomal segregation during meiosis. Both the non-crossover and crossover types of recombination function as processes for repairing DNA damage, particularly double-strand breaks. At the diplotene stage of prophase I the synaptonemal complex disassembles before which will allow the homologous chromosomes to separate, while the sister chromatids stay associated by their centromeres.


Metaphase I

In metaphase I of meiosis I, the pairs of homologous chromosomes, also known as bivalents or tetrads, line up in a random order along the metaphase plate. The random orientation is another way for cells to introduce genetic variation. Meiotic spindles emanating from opposite spindle poles attach to each of the homologs (each pair of sister chromatids) at the
kinetochore A kinetochore (, ) is a flared oblique-shaped protein structure associated with duplicated chromatids in eukaryotic cells where the spindle fibers, which can be thought of as the ropes pulling chromosomes apart, attach during cell division to ...
.


Anaphase I

In anaphase I of meiosis I the homologous chromosomes are pulled apart from each other. The homologs are cleaved by the enzyme
separase Separase, also known as separin, is a cysteine protease responsible for triggering anaphase by hydrolysing cohesin, which is the protein responsible for binding sister chromatids during the early stage of anaphase. In humans, separin is encode ...
to release the cohesin that held the homologous chromosome arms together. This allows the chiasmata to release and the homologs to move to opposite poles of the cell. The homologous chromosomes are now randomly segregated into two daughter cells that will undergo meiosis II to produce four haploid daughter germ cells.


Meiosis II

After the tetrads of homologous chromosomes are separated in meiosis I, the sister chromatids from each pair are separated. The two haploid daughter cells (the number of chromosomes has been reduced to half: earlier two sets of chromosomes were present, but now each set exists in two different daughter cells that have arisen from the single diploid parent cell by meiosis I) resulting from meiosis I undergo another cell division in meiosis II but without another round of chromosomal replication. The sister chromatids in the two daughter cells are pulled apart during anaphase II by nuclear spindle fibers, resulting in four haploid daughter cells.


In mitosis

Homologous chromosomes do not function the same in mitosis as they do in meiosis. Prior to every single mitotic division a cell undergoes, the chromosomes in the parent cell replicate themselves. The homologous chromosomes within the cell will ordinarily not pair up and undergo genetic recombination with each other. Instead, the replicants, or sister chromatids, will line up along the metaphase plate and then separate in the same way as meiosis II – by being pulled apart at their centromeres by nuclear mitotic spindles. If any crossing over does occur between sister chromatids during mitosis, it does not produce any new recombinant genotypes.


In somatic cells

Homologous pairing in most contexts will refer to germline cells, however also takes place in somatic cells. For example, in humans, somatic cells have very tightly regulated homologous pairing (separated into chromosomal territories, and pairing at specific loci under control of developmental signalling). Other species however (notably
Drosophila ''Drosophila'' (), from Ancient Greek δρόσος (''drósos''), meaning "dew", and φίλος (''phílos''), meaning "loving", is a genus of fly, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or p ...
) exhibit homologous pairing much more frequently. In Drosophila the homologous pairing supports a gene regulatory phenomenon called transvection in which an allele on one chromosome affects the expression of the homologous allele on the homologous chromosome. One notable function of this is the
sexually dimorphic Sexual dimorphism is the condition where sexes of the same species exhibit different Morphology (biology), morphological characteristics, including characteristics not directly involved in reproduction. The condition occurs in most dioecy, di ...
regulation of
X-linked Sex linkage describes the sex-specific patterns of inheritance and expression when a gene is present on a sex chromosome (allosome) rather than a non-sex chromosome ( autosome). Genes situated on the X-chromosome are thus termed X-linked, and ...
genes.


Problems

There are severe repercussions when chromosomes do not segregate properly. Faulty segregation can lead to
fertility Fertility in colloquial terms refers the ability to have offspring. In demographic contexts, fertility refers to the actual production of offspring, rather than the physical capability to reproduce, which is termed fecundity. The fertility rate ...
problems, embryo death,
birth defects A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth de ...
, and
cancer Cancer is a group of diseases involving Cell growth#Disorders, abnormal cell growth with the potential to Invasion (cancer), invade or Metastasis, spread to other parts of the body. These contrast with benign tumors, which do not spread. Po ...
. Though the mechanisms for pairing and adhering homologous chromosomes vary among organisms, proper functioning of those mechanisms is imperative in order for the final
genetic material Nucleic acids are large biomolecules that are crucial in all cells and viruses. They are composed of nucleotides, which are the monomer components: a 5-carbon sugar, a phosphate group and a nitrogenous base. The two main classes of nucleic aci ...
to be sorted correctly.


Nondisjunction

Proper homologous chromosome separation in meiosis I is crucial for sister chromatid separation in meiosis II. A failure to separate properly is known as nondisjunction. There are two main types of nondisjunction that occur: trisomy and
monosomy Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair. Partial monosomy occurs when a portion of one chromosome in a pair is missing. Human monosomy Human conditions due to monosomy: * Turner syndrome – Females ...
. Trisomy is caused by the presence of one additional chromosome in the zygote as compared to the normal number, and monosomy is characterized by the presence of one fewer chromosome in the zygote as compared to the normal number. If this uneven division occurs in meiosis I, then none of the daughter cells will have proper chromosomal distribution and non-typical effects can ensue, including Down's syndrome. Unequal division can also occur during the second meiotic division. Nondisjunction which occurs at this stage can result in normal daughter cells and deformed cells.


Other uses

While the main function of homologous chromosomes is their use in nuclear division, they are also used in repairing
double-strand breaks DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. A weakened capacity for DNA repair is a risk factor for the development of cancer. DNA is constantly modified ...
of
DNA Deoxyribonucleic acid (; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of al ...
. These double-stranded breaks may occur in replicating DNA and are most often the result of interaction of DNA with naturally occurring damaging molecules such as
reactive oxygen species In chemistry and biology, reactive oxygen species (ROS) are highly Reactivity (chemistry), reactive chemicals formed from diatomic oxygen (), water, and hydrogen peroxide. Some prominent ROS are hydroperoxide (H2O2), superoxide (O2−), hydroxyl ...
. Homologous chromosomes can
repair The technical meaning of maintenance involves functional checks, servicing, repairing or replacing of necessary devices, equipment, machinery, building infrastructure and supporting utilities in industrial, business, and residential installat ...
this damage by aligning themselves with chromosomes of the same genetic sequence. Once the base pairs have been matched and oriented correctly between the two strands, the homologous chromosomes perform a process that is very similar to recombination, or crossing over as seen in meiosis. Part of the intact DNA sequence overlaps with that of the damaged chromosome's sequence. Replication proteins and complexes are then recruited to the site of damage, allowing for repair and proper replication to occur. Through this functioning, double-strand breaks can be repaired and DNA can function normally.


Relevant research

Current and future research on the subject of homologous chromosome is heavily focused on the roles of various proteins during recombination or during DNA repair. In a recently published article by Pezza et al. the protein known as HOP2 is responsible for both homologous chromosome synapsis as well as double-strand break repair via homologous recombination. The deletion of HOP2 in mice has large repercussions in meiosis. Other current studies focus on specific proteins involved in homologous recombination as well. There is ongoing research concerning the ability of homologous chromosomes to repair double-strand DNA breaks. Researchers are investigating the possibility of exploiting this capability for regenerative medicine. This medicine could be very prevalent in relation to cancer, as DNA damage is thought to be contributor to carcinogenesis. Manipulating the repair function of homologous chromosomes might allow for bettering a cell's damage response system. While research has not yet confirmed the effectiveness of such treatment, it may become a useful therapy for cancer.


See also

*
Homologous recombination Homologous recombination is a type of genetic recombination in which genetic information is exchanged between two similar or identical molecules of double-stranded or single-stranded nucleic acids (usually DNA as in Cell (biology), cellular organi ...
*
Mendelian inheritance Mendelian inheritance (also known as Mendelism) is a type of biological inheritance following the principles originally proposed by Gregor Mendel in 1865 and 1866, re-discovered in 1900 by Hugo de Vries and Carl Correns, and later popularize ...
*
Developmental biology Developmental biology is the study of the process by which animals and plants grow and develop. Developmental biology also encompasses the biology of Regeneration (biology), regeneration, asexual reproduction, metamorphosis, and the growth and di ...
*
Synapsis Synapsis or Syzygy is the pairing of two chromosomes that occurs during meiosis. It allows matching-up of homologous pairs prior to their segregation, and possible chromosomal crossover between them. Synapsis takes place during prophase I of me ...
* Non-disjunction *
Heredity Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic infor ...


References


Further reading

* * {{refend Chromosomes