Are All 46 Chromosomes The Same Size
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. Virtually eukaryotic chromosomes include packaging proteins chosen histones which, aided by chaperone proteins, demark to and condense the DNA molecule to maintain its integrity.[i] [two] These chromosomes display a circuitous iii-dimensional structure, which plays a meaning role in transcriptional regulation.[3]
Chromosomes are unremarkably visible under a light microscope just during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form).[4] Before this happens, each chromosome is duplicated (S stage), and both copies are joined by a centromere, resulting either in an X-shaped structure (pictured higher up), if the centromere is located equatorially, or a 2-arm structure, if the centromere is located distally. The joined copies are now called sister chromatids. During metaphase the 10-shaped construction is called a metaphase chromosome, which is highly condensed and thus easiest to distinguish and study.[five] In animate being cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation.[6]
Chromosomal recombination during meiosis and subsequent sexual reproduction play a meaning office in genetic diverseness. If these structures are manipulated incorrectly, through processes known as chromosomal instability and translocation, the jail cell may undergo mitotic catastrophe. Ordinarily, this will make the cell initiate apoptosis leading to its own death, but sometimes mutations in the cell hamper this process and thus cause progression of cancer.
Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. Others use the concept in a narrower sense, to refer to the individualized portions of chromatin during cell sectionalization, visible nether light microscopy due to high condensation.
Etymology [edit]
The give-and-take chromosome ([seven] [8]) comes from the Greek χρῶμα (chroma, "colour") and σῶμα (soma, "trunk"), describing their strong staining by item dyes.[9] The term was coined by the German anatomist Heinrich Wilhelm Waldeyer,[x] referring to the term chromatin, which was introduced by Walther Flemming, the discoverer of cell division.
Some of the early karyological terms have go outdated.[11] [12] For example, Chromatin (Flemming 1880) and Chromosom (Waldeyer 1888), both ascribe color to a non-colored state.[13]
History of discovery [edit]
The German language scientists Schleiden,[v] Virchow and Bütschli were among the beginning scientists who recognized the structures now familiar every bit chromosomes.[14]
In a serial of experiments beginning in the mid-1880s, Theodor Boveri gave definitive contributions to elucidating that chromosomes are the vectors of heredity, with ii notions that became known equally 'chromosome continuity' and 'chromosome individuality'.[15]
Wilhelm Roux suggested that each chromosome carries a different genetic configuration, and Boveri was able to test and confirm this hypothesis. Aided by the rediscovery at the start of the 1900s of Gregor Mendel's before work, Boveri was able to indicate out the connexion betwixt the rules of inheritance and the behaviour of the chromosomes. Boveri influenced 2 generations of American cytologists: Edmund Beecher Wilson, Nettie Stevens, Walter Sutton and Theophilus Painter were all influenced by Boveri (Wilson, Stevens, and Painter really worked with him).[sixteen]
In his famous textbook The Cell in Development and Heredity, Wilson linked together the contained work of Boveri and Sutton (both around 1902) past naming the chromosome theory of inheritance the Boveri–Sutton chromosome theory (the names are sometimes reversed).[17] Ernst Mayr remarks that the theory was hotly contested by some famous geneticists: William Bateson, Wilhelm Johannsen, Richard Goldschmidt and T.H. Morgan, all of a rather dogmatic plough of mind. Somewhen, complete proof came from chromosome maps in Morgan's own lab.[18]
The number of human being chromosomes was published in 1923 by Theophilus Painter. By inspection through the microscope, he counted 24 pairs, which would mean 48 chromosomes. His fault was copied past others and it was not until 1956 that the true number, 46, was adamant by Republic of indonesia-born cytogeneticist Joe Hin Tjio.[xix]
Prokaryotes [edit]
The prokaryotes – bacteria and archaea – typically have a single circular chromosome, but many variations exist.[20] The chromosomes of nearly bacteria, which some authors prefer to call genophores, can range in size from only 130,000 base of operations pairs in the endosymbiotic bacteria Candidatus Hodgkinia cicadicola [21] and Candidatus Tremblaya princeps,[22] to more than 14,000,000 base pairs in the soil-dwelling bacterium Sorangium cellulosum.[23] Spirochaetes of the genus Borrelia are a notable exception to this arrangement, with bacteria such every bit Borrelia burgdorferi, the crusade of Lyme illness, containing a single linear chromosome.[24]
Construction in sequences [edit]
Prokaryotic chromosomes have less sequence-based construction than eukaryotes. Bacteria typically have a one-point (the origin of replication) from which replication starts, whereas some archaea incorporate multiple replication origins.[25] The genes in prokaryotes are often organized in operons, and exercise not normally comprise introns, unlike eukaryotes.
Dna packaging [edit]
Prokaryotes do not possess nuclei. Instead, their Deoxyribonucleic acid is organized into a construction called the nucleoid.[26] [27] The nucleoid is a distinct structure and occupies a divers region of the bacterial cell. This structure is, nonetheless, dynamic and is maintained and remodeled by the actions of a range of histone-similar proteins, which associate with the bacterial chromosome.[28] In archaea, the Dna in chromosomes is even more than organized, with the Dna packaged within structures like to eukaryotic nucleosomes.[29] [xxx]
Certain bacteria also contain plasmids or other extrachromosomal Deoxyribonucleic acid. These are round structures in the cytoplasm that comprise cellular DNA and play a role in horizontal cistron transfer.[5] In prokaryotes (run across nucleoids) and viruses,[31] the DNA is often densely packed and organized; in the example of archaea, by homology to eukaryotic histones, and in the case of leaner, by histone-like proteins.
Bacterial chromosomes tend to be tethered to the plasma membrane of the bacteria. In molecular biological science application, this allows for its isolation from plasmid DNA by centrifugation of lysed leaner and pelleting of the membranes (and the attached DNA).
Prokaryotic chromosomes and plasmids are, like eukaryotic DNA, more often than not supercoiled. The DNA must first exist released into its relaxed state for access for transcription, regulation, and replication.
Eukaryotes [edit]
Each eukaryotic chromosome consists of a long linear Dna molecule associated with proteins, forming a compact circuitous of proteins and Deoxyribonucleic acid called chromatin. Chromatin contains the vast majority of the DNA of an organism, simply a small amount inherited maternally, can be found in the mitochondria. Information technology is present in most cells, with a few exceptions, for instance, red blood cells.
Histones are responsible for the first and most bones unit of chromosome organization, the nucleosome.
Eukaryotes (cells with nuclei such as those found in plants, fungi, and animals) possess multiple large linear chromosomes contained in the cell's nucleus. Each chromosome has ane centromere, with i or two artillery projecting from the centromere, although, under most circumstances, these arms are not visible as such. In improver, most eukaryotes have a minor circular mitochondrial genome, and some eukaryotes may have additional small-scale circular or linear cytoplasmic chromosomes.
In the nuclear chromosomes of eukaryotes, the uncondensed DNA exists in a semi-ordered construction, where it is wrapped effectually histones (structural proteins), forming a composite textile chosen chromatin.
Interphase chromatin [edit]
The packaging of DNA into nucleosomes causes a 10 nanometer fibre which may further condense up to 30 nm fibres[32] Virtually of the euchromatin in interphase nuclei appears to be in the course of 30-nm fibers.[32] Chromatin structure is the more than decondensed state, i.eastward. the ten-nm conformation allows transcription.[32]
During interphase (the period of the jail cell bicycle where the prison cell is not dividing), two types of chromatin tin be distinguished:
- Euchromatin, which consists of Deoxyribonucleic acid that is active, e.g., being expressed every bit protein.
- Heterochromatin, which consists of mostly inactive Dna. It seems to serve structural purposes during the chromosomal stages. Heterochromatin can exist farther distinguished into two types:
- Constitutive heterochromatin, which is never expressed. It is located around the centromere and unremarkably contains repetitive sequences.
- Facultative heterochromatin, which is sometimes expressed.
Metaphase chromatin and segmentation [edit]
In the early stages of mitosis or meiosis (jail cell division), the chromatin double helix become more and more than condensed. They cease to function as accessible genetic material (transcription stops) and become a compact transportable class. The loops of thirty-nm chromatin fibers are idea to fold upon themselves further to form the compact metaphase chromosomes of mitotic cells. The Deoxyribonucleic acid is thus condensed almost 10,000 fold.[32]
The chromosome scaffold, which is made of proteins such as condensin, TOP2A and KIF4,[33] plays an important role in property the chromatin into meaty chromosomes. Loops of 30 nm structure further condense with scaffold into higher club structures.[34]
This highly meaty form makes the private chromosomes visible, and they course the classic four-arm structure, a pair of sister chromatids attached to each other at the centromere. The shorter artillery are called p arms (from the French petit, small) and the longer arms are chosen q arms (q follows p in the Latin alphabet; q-g "grande"; alternatively it is sometimes said q is brusque for queue meaning tail in French[35]). This is the only natural context in which individual chromosomes are visible with an optical microscope.
Mitotic metaphase chromosomes are best described by a linearly organized longitudinally compressed array of consecutive chromatin loops.[36]
During mitosis, microtubules grow from centrosomes located at opposite ends of the cell and as well attach to the centromere at specialized structures called kinetochores, one of which is present on each sister chromatid. A special Deoxyribonucleic acid base of operations sequence in the region of the kinetochores provides, forth with special proteins, longer-lasting attachment in this region. The microtubules and then pull the chromatids apart toward the centrosomes, so that each daughter cell inherits ane ready of chromatids. Once the cells have divided, the chromatids are uncoiled and Deoxyribonucleic acid can again be transcribed. In spite of their appearance, chromosomes are structurally highly condensed, which enables these behemothic Dna structures to be contained within a cell nucleus.
Human chromosomes [edit]
Chromosomes in humans tin be divided into two types: autosomes (body chromosome(due south)) and allosome (sex activity chromosome(s)). Certain genetic traits are linked to a person's sex and are passed on through the sex activity chromosomes. The autosomes comprise the rest of the genetic hereditary information. All act in the same manner during prison cell division. Human cells have 23 pairs of chromosomes (22 pairs of autosomes and ane pair of sex chromosomes), giving a total of 46 per cell. In addition to these, human cells have many hundreds of copies of the mitochondrial genome. Sequencing of the human genome has provided a not bad deal of data nearly each of the chromosomes. Below is a table compiling statistics for the chromosomes, based on the Sanger Institute's human being genome data in the Vertebrate Genome Annotation (VEGA) database.[37] Number of genes is an estimate, as information technology is in part based on factor predictions. Full chromosome length is an judge as well, based on the estimated size of unsequenced heterochromatin regions.
Chromosome | Genes[38] | Total base pairs | % of bases | Sequenced base pairs[39] | % sequenced base pairs |
---|---|---|---|---|---|
1 | 2000 | 247,199,719 | eight.0 | 224,999,719 | 91.02% |
2 | 1300 | 242,751,149 | 7.9 | 237,712,649 | 97.92% |
3 | one thousand | 199,446,827 | 6.5 | 194,704,827 | 97.62% |
4 | 1000 | 191,263,063 | 6.ii | 187,297,063 | 97.93% |
five | 900 | 180,837,866 | 5.nine | 177,702,766 | 98.27% |
half dozen | grand | 170,896,993 | five.five | 167,273,993 | 97.88% |
7 | 900 | 158,821,424 | five.2 | 154,952,424 | 97.56% |
8 | 700 | 146,274,826 | 4.vii | 142,612,826 | 97.fifty% |
ix | 800 | 140,442,298 | iv.six | 120,312,298 | 85.67% |
10 | 700 | 135,374,737 | 4.iv | 131,624,737 | 97.23% |
11 | 1300 | 134,452,384 | 4.four | 131,130,853 | 97.53% |
12 | 1100 | 132,289,534 | 4.3 | 130,303,534 | 98.l% |
13 | 300 | 114,127,980 | 3.7 | 95,559,980 | 83.73% |
14 | 800 | 106,360,585 | 3.5 | 88,290,585 | 83.01% |
15 | 600 | 100,338,915 | 3.3 | 81,341,915 | 81.07% |
16 | 800 | 88,822,254 | two.nine | 78,884,754 | 88.81% |
17 | 1200 | 78,654,742 | 2.6 | 77,800,220 | 98.91% |
18 | 200 | 76,117,153 | 2.5 | 74,656,155 | 98.08% |
19 | 1500 | 63,806,651 | ii.1 | 55,785,651 | 87.43% |
20 | 500 | 62,435,965 | 2.0 | 59,505,254 | 95.31% |
21 | 200 | 46,944,323 | 1.5 | 34,171,998 | 72.79% |
22 | 500 | 49,528,953 | 1.6 | 34,893,953 | 70.45% |
X (sexual practice chromosome) | 800 | 154,913,754 | 5.0 | 151,058,754 | 97.51% |
Y (sex chromosome) | 200[40] | 57,741,652 | 1.ix | 25,121,652 | 43.51% |
Total | 21,000 | iii,079,843,747 | 100.0 | 2,857,698,560 | 92.79% |
Number in various organisms [edit]
In eukaryotes [edit]
The number of chromosomes in eukaryotes is highly variable (run into tabular array). In fact, chromosomes tin can fuse or break and thus evolve into novel karyotypes. Chromosomes can besides be fused artificially. For instance, the sixteen chromosomes of yeast take been fused into one giant chromosome and the cells were still viable with simply somewhat reduced growth rates.[41]
The tables beneath requite the total number of chromosomes (including sex chromosomes) in a cell nucleus. For example, most eukaryotes are diploid, like humans who have 22 different types of autosomes, each present as ii homologous pairs, and ii sexual activity chromosomes. This gives 46 chromosomes in full. Other organisms have more than 2 copies of their chromosome types, such as staff of life wheat, which is hexaploid and has six copies of seven different chromosome types – 42 chromosomes in total.
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Normal members of a particular eukaryotic species all accept the same number of nuclear chromosomes (run across the tabular array). Other eukaryotic chromosomes, i.e., mitochondrial and plasmid-similar minor chromosomes, are much more than variable in number, and there may be thousands of copies per cell.
Asexually reproducing species take 1 set of chromosomes that are the same in all body cells. Nonetheless, asexual species tin can be either haploid or diploid.
Sexually reproducing species take somatic cells (torso cells), which are diploid [2n] having two sets of chromosomes (23 pairs in humans), ane set from the mother and ane from the father. Gametes, reproductive cells, are haploid [due north]: They have 1 set of chromosomes. Gametes are produced past meiosis of a diploid germ line cell. During meiosis, the matching chromosomes of father and mother can substitution pocket-sized parts of themselves (crossover), and thus create new chromosomes that are not inherited solely from either parent. When a male person and a female gamete merge (fertilization), a new diploid organism is formed.
Some brute and establish species are polyploid [Xn]: They accept more than two sets of homologous chromosomes. Plants important in agriculture such as tobacco or wheat are often polyploid, compared to their ancestral species. Wheat has a haploid number of 7 chromosomes, still seen in some cultivars too equally the wild progenitors. The more-common pasta and staff of life wheat types are polyploid, having 28 (tetraploid) and 42 (hexaploid) chromosomes, compared to the 14 (diploid) chromosomes in the wild wheat.[67]
In prokaryotes [edit]
Prokaryote species generally have one copy of each major chromosome, only most cells tin easily survive with multiple copies.[68] For case, Buchnera, a symbiont of aphids has multiple copies of its chromosome, ranging from 10–400 copies per jail cell.[69] Nevertheless, in some large bacteria, such equally Epulopiscium fishelsoni up to 100,000 copies of the chromosome can be present.[70] Plasmids and plasmid-similar small chromosomes are, as in eukaryotes, highly variable in copy number. The number of plasmids in the cell is well-nigh entirely determined by the rate of division of the plasmid – fast division causes high copy number.
Karyotype [edit]
In general, the karyotype is the characteristic chromosome complement of a eukaryote species.[71] The preparation and written report of karyotypes is part of cytogenetics.
Although the replication and transcription of DNA is highly standardized in eukaryotes, the aforementioned cannot be said for their karyotypes, which are often highly variable. At that place may be variation between species in chromosome number and in detailed organisation. In some cases, there is pregnant variation within species. Oft there is:
- 1. variation between the 2 sexes
- two. variation between the germ-line and soma (between gametes and the residue of the body)
- 3. variation betwixt members of a population, due to balanced genetic polymorphism
- four. geographical variation betwixt races
- 5. mosaics or otherwise aberrant individuals.
Too, variation in karyotype may occur during development from the fertilized egg.
The technique of determining the karyotype is usually called karyotyping. Cells tin can be locked function-way through partition (in metaphase) in vitro (in a reaction vial) with colchicine. These cells are and then stained, photographed, and arranged into a karyogram, with the set up of chromosomes bundled, autosomes in club of length, and sex chromosomes (hither X/Y) at the terminate.
Like many sexually reproducing species, humans have special gonosomes (sex chromosomes, in contrast to autosomes). These are XX in females and XY in males.
History and analysis techniques [edit]
Investigation into the human karyotype took many years to settle the most basic question: How many chromosomes does a normal diploid human prison cell incorporate? In 1912, Hans von Winiwarter reported 47 chromosomes in spermatogonia and 48 in oogonia, concluding an XX/XO sex determination machinery.[72] Painter in 1922 was not certain whether the diploid number of man is 46 or 48, at showtime favouring 46.[73] He revised his stance later from 46 to 48, and he correctly insisted on humans having an Twenty/XY system.[74]
New techniques were needed to definitively solve the problem:
- Using cells in culture
- Arresting mitosis in metaphase by a solution of colchicine
- Pretreating cells in a hypotonic solution 0.075 M KCl, which swells them and spreads the chromosomes
- Squashing the preparation on the slide forcing the chromosomes into a single plane
- Cut upwardly a photomicrograph and arranging the event into an indisputable karyogram.
It took until 1954 before the human diploid number was confirmed as 46.[75] [76] Considering the techniques of Winiwarter and Painter, their results were quite remarkable.[77] Chimpanzees, the closest living relatives to modernistic humans, take 48 chromosomes every bit practice the other great apes: in humans two chromosomes fused to form chromosome 2.
Aberrations [edit]
Chromosomal aberrations are disruptions in the normal chromosomal content of a jail cell and are a major cause of genetic conditions in humans, such as Down syndrome, although nearly aberrations take trivial to no consequence. Some chromosome abnormalities do non cause affliction in carriers, such equally translocations, or chromosomal inversions, although they may lead to a higher gamble of bearing a child with a chromosome disorder. Aberrant numbers of chromosomes or chromosome sets, called aneuploidy, may exist lethal or may give rising to genetic disorders.[78] Genetic counseling is offered for families that may carry a chromosome rearrangement.
The proceeds or loss of DNA from chromosomes can lead to a variety of genetic disorders. Human examples include:
- Cri du conversation, which is caused by the deletion of part of the brusque arm of chromosome five. "Cri du conversation" ways "cry of the cat" in French; the condition was so-named because affected babies make high-pitched cries that sound like those of a cat. Affected individuals have wide-fix eyes, a small head and jaw, moderate to severe mental health problems, and are very curt.
- Down's syndrome, the most common trisomy, ordinarily caused by an extra copy of chromosome 21 (trisomy 21). Characteristics include decreased muscle tone, stockier build, asymmetrical skull, slanting eyes and mild to moderate developmental inability.[79]
- Edwards syndrome, or trisomy-18, the second most mutual trisomy.[80] Symptoms include motor retardation, developmental disability and numerous congenital anomalies causing serious wellness problems. Ninety percent of those affected die in infancy. They have characteristic clenched easily and overlapping fingers.
- Isodicentric xv, also called idic(15), fractional tetrasomy 15q, or inverted duplication xv (inv dup 15).
- Jacobsen syndrome, which is very rare. Information technology is also called the terminal 11q deletion disorder.[81] Those afflicted take normal intelligence or mild developmental disability, with poor expressive language skills. Nearly have a bleeding disorder called Paris-Trousseau syndrome.
- Klinefelter syndrome (XXY). Men with Klinefelter syndrome are usually sterile and tend to be taller and have longer arms and legs than their peers. Boys with the syndrome are oft shy and tranquility and have a college incidence of oral communication delay and dyslexia. Without testosterone treatment, some may develop gynecomastia during puberty.
- Patau Syndrome, also called D-Syndrome or trisomy-13. Symptoms are somewhat similar to those of trisomy-18, without the feature folded mitt.
- Small supernumerary marker chromosome. This ways at that place is an extra, abnormal chromosome. Features depend on the origin of the extra genetic fabric. Cat-eye syndrome and isodicentric chromosome xv syndrome (or Idic15) are both caused by a supernumerary marker chromosome, every bit is Pallister–Killian syndrome.
- Triple-10 syndrome (Thirty). XXX girls tend to be tall and thin and have a higher incidence of dyslexia.
- Turner syndrome (10 instead of XX or XY). In Turner syndrome, female sexual characteristics are nowadays simply underdeveloped. Females with Turner syndrome often have a curt stature, low hairline, abnormal eye features and bone evolution and a "caved-in" appearance to the breast.
- Wolf–Hirschhorn syndrome, which is caused by fractional deletion of the brusque arm of chromosome 4. Information technology is characterized by growth retardation, delayed motor skills development, "Greek Helmet" facial features, and mild to profound mental health problems.
- XYY syndrome. XYY boys are commonly taller than their siblings. Like XXY boys and XXX girls, they are more likely to accept learning difficulties.
Sperm aneuploidy [edit]
Exposure of males to certain lifestyle, environmental and/or occupational hazards may increase the run a risk of aneuploid spermatozoa.[82] In particular, risk of aneuploidy is increased by tobacco smoking,[83] [84] and occupational exposure to benzene,[85] insecticides,[86] [87] and perfluorinated compounds.[88] Increased aneuploidy is oft associated with increased DNA harm in spermatozoa.
See also [edit]
- Aneuploidy
- Chromomere
- Chromosome segregation
- Cohesin
- Condensin
- Deoxyribonucleic acid
- Genetic deletion
- Epigenetics
- For information about chromosomes in genetic algorithms, see chromosome (genetic algorithm)
- Genetic genealogy
- Genealogical DNA test
- Lampbrush chromosome
- List of number of chromosomes of various organisms
- Locus (explains gene location nomenclature)
- Maternal influence on sex conclusion
- Non-disjunction
- Secondary chromosome
- Sex-determination organization
- XY sex activity-determination system
- X-chromosome
- X-inactivation
- Y-chromosome
- Y-chromosomal Aaron
- Y-chromosomal Adam
- X-chromosome
- XY sex activity-determination system
- Polytene chromosome
- Protamine
- Neochromosome
- Parasitic chromosome
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External links [edit]
- An Introduction to Deoxyribonucleic acid and Chromosomes from HOPES: Huntington'due south Outreach Projection for Educational activity at Stanford
- Chromosome Abnormalities at AtlasGeneticsOncology
- On-line exhibition on chromosomes and genome (SIB)
- What Can Our Chromosomes Tell Usa?, from the Academy of Utah'southward Genetic Science Learning Centre
- Endeavour making a karyotype yourself, from the University of Utah'south Genetic Science Learning Center
- Kimballs Chromosome pages
- Chromosome News from Genome News Network
- Eurochromnet, European network for Rare Chromosome Disorders on the Internet
- Ensembl.org, Ensembl project, presenting chromosomes, their genes and syntenic loci graphically via the spider web
- Genographic Project Archived 12 July 2007 at the Wayback Car
- Dwelling reference on Chromosomes from the U.S. National Library of Medicine
- Visualisation of homo chromosomes and comparison to other species
- Unique – The Rare Chromosome Disorder Back up Group Support for people with rare chromosome disorders
Are All 46 Chromosomes The Same Size,
Source: https://en.wikipedia.org/wiki/Chromosome
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