<< Chapter < Page Chapter >> Page >
 Illustration shows pericentric and paracentric inversions. In this example, the order of genes in the normal chromosome is ABCDEF, with the centromere between genes C and D. In the pericentric inversion the order is ABDCEF. In the paracentric inversion example, the resulting gene order is ABCDFE.
Pericentric inversions include the centromere, and paracentric inversions do not. A pericentric inversion can change the relative lengths of the chromosome arms; a paracentric inversion cannot.

When one homologous chromosome undergoes an inversion but the other does not, the individual is described as an inversion heterozygote. To maintain point-for-point synapsis during meiosis, one homolog must form a loop, and the other homolog must mold around it. Although this topology can ensure that the genes are correctly aligned, it also forces the homologs to stretch and can be associated with regions of imprecise synapsis ( [link] ).

 This illustration shows the inversion pairing that occurs when one chromosome undergoes inversion but the other does not. For chromosome alignment to occur during meiosis, one chromosome must form an inverted loop while the other conforms around it.
When one chromosome undergoes an inversion but the other does not, one chromosome must form an inverted loop to retain point-for-point interaction during synapsis. This inversion pairing is essential to maintaining gene alignment during meiosis and to allow for recombination.

Evolution connection

The chromosome 18 inversion

Not all structural rearrangements of chromosomes produce nonviable, impaired, or infertile individuals. In rare instances, such a change can result in the evolution of a new species. In fact, a pericentric inversion in chromosome 18 appears to have contributed to the evolution of humans. This inversion is not present in our closest genetic relatives, the chimpanzees. Humans and chimpanzees differ cytogenetically by pericentric inversions on several chromosomes and by the fusion of two separate chromosomes in chimpanzees that correspond to chromosome two in humans.

The pericentric chromosome 18 inversion is believed to have occurred in early humans following their divergence from a common ancestor with chimpanzees approximately five million years ago. Researchers characterizing this inversion have suggested that approximately 19,000 nucleotide bases were duplicated on 18p, and the duplicated region inverted and reinserted on chromosome 18 of an ancestral human.

A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes— ROCK1 and USP14 —that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. This suggests that one of the inversion breakpoints occurred between these two genes. Interestingly, humans and chimpanzees express USP14 at distinct levels in specific cell types, including cortical cells and fibroblasts. Perhaps the chromosome 18 inversion in an ancestral human repositioned specific genes and reset their expression levels in a useful way. Because both ROCK1 and USP14 encode cellular enzymes, a change in their expression could alter cellular function. It is not known how this inversion contributed to hominid evolution, but it appears to be a significant factor in the divergence of humans from other primates.

Violaine Goidts et al., “Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates,” Human Genetics . 115 (2004):116-122


A translocation    occurs when a segment of a chromosome dissociates and reattaches to a different, nonhomologous chromosome. Translocations can be benign or have devastating effects depending on how the positions of genes are altered with respect to regulatory sequences. Notably, specific translocations have been associated with several cancers and with schizophrenia. Reciprocal translocations result from the exchange of chromosome segments between two nonhomologous chromosomes such that there is no gain or loss of genetic information ( [link] ).

 Illustration shows a reciprocal translocation in which DNA is transferred from one chromosome to another. No genetic information is gained or lost in the process.
A reciprocal translocation occurs when a segment of DNA is transferred from one chromosome to another, nonhomologous chromosome. (credit: modification of work by National Human Genome Research/USA)

Section summary

The number, size, shape, and banding pattern of chromosomes make them easily identifiable in a karyogram and allows for the assessment of many chromosomal abnormalities. Disorders in chromosome number, or aneuploidies, are typically lethal to the embryo, although a few trisomic genotypes are viable. Because of X inactivation, aberrations in sex chromosomes typically have milder phenotypic effects. Aneuploidies also include instances in which segments of a chromosome are duplicated or deleted. Chromosome structures may also be rearranged, for example by inversion or translocation. Both of these aberrations can result in problematic phenotypic effects. Because they force chromosomes to assume unnatural topologies during meiosis, inversions and translocations are often associated with reduced fertility because of the likelihood of nondisjunction.

Art connections

[link] Which of the following statements about nondisjunction is true?

  1. Nondisjunction only results in gametes with n+1 or n–1 chromosomes.
  2. Nondisjunction occurring during meiosis II results in 50 percent normal gametes.
  3. Nondisjunction during meiosis I results in 50 percent normal gametes.
  4. Nondisjunction always results in four different kinds of gametes.

[link] B.

Got questions? Get instant answers now!

Questions & Answers

Please what is ovulation
Adusei Reply
What is cell division?
What is copulation?
what is a metaborism
Beatrice Reply
this is a specialized part of the cell eg Nucleus
David Reply
what are the organelles?
Faith Reply
what is reproduction
mana Reply
reproduction is the process by which living organisms give rise to young ones of their own kind
What is evolution
the production of new forms of life over time as documented in the fossil record.
give two parasites where secondary host is water snail?
Kevin Reply
what is treats
Raih Reply
what are the organelles in cell that involves in protein sythenis
Rita Reply
what is a melanin?
Judith Reply
what is telophase
melanin in that black color we posse in our skins
Why do parasites take on a parasitic life?
Asadullah Reply
what is cell
Ousman Reply
A cell is the basic structure unit of an organ
what is respiration
what is organisms?
Organisms are living things that can function on their own
A cell is a functional basic unit of an organisms.
Organisms is a entity which consists of one or more cells and are able to undergo all life processes
A respiration is the physical and chemical break down of complex food substance into absorbable or simple form.
What will to a cell if the nucleus is removed..?
Goodrick Reply
When a cell nucleus removed then the cell will not be able to function properly, it will not be able to grow .All the metabolic functioning of the cell will stop .Without nucleus the cell will lose it's control. It can not carry out cellular reproduction .
defin peroxesome
write a short note on how the kidney carry out osmoregulation in man
Rhoda Reply
Kidney play a very large role in human osoregulation by regulating the amount of water reabsorbed from glomerular filtrate in kidney as tubules, which is controlled by hormones such as antrdiuvetic hormone (ADH) , aldosterone and angiotensin.
kidney is capable of osmoregulation in mammal ,
simple definition for respiratory system
Gift Reply
Respiratory system is a network of organs and tissues that helps you to breathe or help in getting the rids of oxygen and discharge of carbon dioxide in the body.
What are uses of respiratory system
how it functions
what is inresparetion
Why do parasites take on a parasitic life?
A respiratory system is a biological system consisting of specific organs and structures used for gas exchange in animals and plant
diseases of respiration
when air enters to the body called inresparetion
explain why plants responds to stimuli slowly than animals
how is a aerenchyma tissue adapted to its function
fatuma Reply
Have large air spaces that store air for gaseous exchange... Large air spaces also facilitate bouyancy.

Get the best Biology course in your pocket!

Source:  OpenStax, Biology. OpenStax CNX. Feb 29, 2016 Download for free at http://cnx.org/content/col11448/1.10
Google Play and the Google Play logo are trademarks of Google Inc.

Notification Switch

Would you like to follow the 'Biology' conversation and receive update notifications?