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 and a long arm on the chromatids. During mitosis, spindle fibers attach to the centromere via the kinetochore.
The physical role of the centromere is to act as the site of assembly of the kinetochores – a highly complex multiprotein structure that is responsible for the actual events of chromosome segregation – i.e. binding microtubules and signaling to the cell cycle machinery when all chromosomes have adopted correct attachments to the spindle, so that it is safe for cell division to proceed to completion and for cells to enter anaphase.
There are, broadly speaking, two types of centromeres. "Point centromeres" bind to specific proteins that recognize particular DNA sequences with high efficiency. Any piece of DNA with the point centromere DNA sequence on it will typically form a centromere if present in the appropriate species. The best characterized point centromeres are those of the budding yeast, Saccharomyces cerevisiae. "Regional centromeres" is the term coined to describe most centromeres, which typically form on regions of preferred DNA sequence, but which can form on other DNA sequences as well. The signal for formation of a regional centromere appears to be epigenetic. Most organisms, ranging from the fission yeast Schizosaccharomyces pombe to humans, have regional centromeres.
Regarding mitotic chromosome structure, centromeres represent a constricted region of the chromosome where two identical sister chromatids are most closely in contact. When cells enter mitosis, the sister chromatids are linked along their length by the action of the cohesin complex. It is now believed that this complex is mostly released from chromosome arms during prophase, so that by the time the chromosomes line up at the mid-plane of the mitotic spindle, the last place where they are linked with one another is in the chromatin in and around the centromere.
Position
In humans, centromere positions define the chromosomal karyotype, in which each chromosome has two arms, p and q. The short arm 'p' is reportedly named for the French word "petit" meaning 'small'. The position of the centromere relative to any particular linear chromosome is used to classify chromosomes as metacentric, submetacentric, acrocentric, telocentric, or holocentric.| Centromere position | Arms length ratio | Sign | Description |
| Medial sensu stricto | 1.0 – 1.6 | M | [|Metacentric] |
| Medial region | 1.7 | m | Metacentric |
| Submedial | 3.0 | sm | Submetacentric |
| Subterminal | 3.1 – 6.9 | st | Subtelocentric |
| Terminal region | 7.0 | t | Acrocentric |
| Terminal sensu stricto | ∞ | T | Telocentric |
| Notes | – | Metacentric: M+'m | Atelocentric: M'+m+'sm+st+t' |
Metacentric
Metacentric means that the centromere is positioned midway between the chromosome ends, resulting in the arms being approximately equal in length. When the centromeres are metacentric, the chromosomes appear to be "x-shaped."Submetacentric
Submetacentric means that the centromere is positioned below the middle, with one chromosome arm shorter than the other, often resulting in an L shape.Acrocentric
An acrocentric chromosome's centromere is situated so that one of the chromosome arms is much shorter than the other. The "acro-" in acrocentric refers to the Greek word for "peak." The human genome has six acrocentric chromosomes, including five autosomal chromosomes and the Y chromosome.Short acrocentric p-arms contain little genetic material and can be translocated without significant harm, as in a balanced Robertsonian translocation. In addition to some protein coding genes, human acrocentric p-arms also contain Nucleolus organizer regions, from which ribosomal RNA is transcribed. However, a proportion of acrocentric p-arms in cell lines and tissues from normal human donors do not contain detectable NORs. The domestic horse genome includes one metacentric chromosome that is homologous to two acrocentric chromosomes in the conspecific but undomesticated Przewalski's horse. This may reflect either fixation of a balanced Robertsonian translocation in domestic horses or, conversely, fixation of the fission of one metacentric chromosome into two acrocentric chromosomes in Przewalski's horses. A similar situation exists between the human and great ape genomes, with a reduction of two acrocentric chromosomes in the great apes to one metacentric chromosome in humans.
Many diseases from the result of unbalanced translocations more frequently involve acrocentric chromosomes than other non-acrocentric chromosomes. Acrocentric chromosomes are usually located in and around the nucleolus. As a result, these chromosomes tend to be less densely packed than chromosomes in the nuclear periphery. Consistently, chromosomal regions that are less densely packed are also more prone to chromosomal translocations in cancers.
Telocentric
Telocentric chromosomes have a centromere at one end of the chromosome and therefore exhibit only one arm at the cytological level. They are not present in humans but can form through cellular chromosomal errors. Telocentric chromosomes occur naturally in many species, such as the house mouse, in which all chromosomes except the Y are telocentric.Subtelocentric
Subtelocentric chromosomes' centromeres are located between the middle and the end of the chromosomes, but reside closer to the end of the chromosomes.Centromere types
Acentric
An acentric chromosome is fragment of a chromosome that lacks a centromere. Since centromeres are the attachment point for spindle fibers in cell division, acentric fragments are not evenly distributed to daughter cells during cell division. As a result, a daughter cell will lack the acentric fragment and deleterious consequences could occur.Chromosome-breaking events can also generate acentric chromosomes or acentric fragments.
Dicentric
A dicentric chromosome is an abnormal chromosome with two centromeres, which can be unstable through cell divisions. It can form through translocation between or fusion of two chromosome segments, each with a centromere. Some rearrangements produce both dicentric chromosomes and acentric fragments which can not attach to spindles at mitosis. The formation of dicentric chromosomes has been attributed to genetic processes, such as Robertsonian translocation and paracentric inversion. Dicentric chromosomes can have a variety of fates, including mitotic stability. In some cases, their stability comes from inactivation of one of the two centromeres to make a functionally monocentric chromosome capable of normal transmission to daughter cells during cell division.For example, human chromosome 2, which is believed to be the result of a Robertsonian translocation at some point in the evolution between the great apes and Homo, has a second, vestigial, centromere near the middle of its long arm.
Monocentric
The monocentric chromosome is a chromosome that has only one centromere in a chromosome and forms a narrow constriction.Monocentric centromeres are the most common structure on highly repetitive DNA in plants and animals.
Holocentric
Unlike monocentric chromosomes, holocentric chromosomes have no distinct primary constriction when viewed at mitosis. Instead, spindle fibers attach along almost the entire length of the chromosome. In holocentric chromosomes centromeric proteins, such as CENPA are spread over the whole chromosome. The nematode, Caenorhabditis elegans, is a well-known example of an organism with holocentric chromosomes, but this type of centromere can be found in various species, plants, and animals, across eukaryotes. Holocentromeres are actually composed of multiple distributed centromere units that form a line-like structure along the chromosomes during mitosis. Alternative or nonconventional strategies are deployed at meiosis to achieve the homologous chromosome pairing and segregation needed to produce viable gametes or gametophytes for sexual reproduction.Different types of holocentromeres exist in different species, namely with or without centromeric repetitive DNA sequences and with or without CenH3. Holocentricity has evolved at least 13 times independently in various green algae, protozoans, invertebrates, and different plant families. Contrary to monocentric species where acentric fragments usually become lost during cell division, the breakage of holocentric chromosomes creates fragments with normal spindle fiber attachment sites. Because of this, organisms with holocentric chromosomes can more rapidly evolve karyotype variation, able to heal fragmented chromosomes through subsequent addition of telomere caps at the sites of breakage.
Polycentric
Polycentric chromosomes have several kinetochore clusters, i.e. centromes. The term overlaps partially with "holocentric", but "polycentric" is clearly preferred when discussing defectively formed monocentric chromosomes. There is some actual ambiguity as well, as there is no clear line dividing up the transition from kinetochores covering the whole chromosome to distinct clusters. In other words, the difference between "the whole chromosome is a centrome" and "the chromosome has no centrome" is hazy and usage varies. Beyond "polycentricity" being used more about defects, there is no clear preference in other topics such as evolutionary origin or kinetochore distribution and detailed structure.Even clearly distinct clusters of kinetochore proteins do not necessarily produce more than one constriction: "Metapolycentric" chromosomes feature one elongated constriction of the chromosome, joining a longer segment which is still visibly shorter than the chromatids. Metapolycentric chromosomes may be a step in the emergence and suppression of centromere drive, a type of meiotic drive that disrupts parity by monocentric centromeres growing additional kinetochore proteins to gain an advantage during meiosis.