<< 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

there are 3 trimester in human pregnancy
I don't know answer of this question can u help me
what is a cell
Fatima Reply
what is genetic
Janet Reply
I join
what are the branchas of biology
Prisca Reply
zoology, ecology
genetics, microbiology,botany and embryology
what is a cell
Kulunbawi Reply
cell is smallest unit of life. cells are often cell the building blocks of life...
the first twenty element
Orapinega Reply
what are the characteristics of living things?
growth,respiration,nutrition,sensitivity, movement,irritability, excretion,death.
What is the difference between adaptation and competition in animals
Adeyemi Reply
What is biology
it is a natural science stadey about living things
Biology is the bronch of science which deals with the study of life is called biology
what is the x in 300 stands for?
Ogbudu Reply
the properties of life
Clarinda Reply
response to the environment, reproduction, homeostasis, growth,energy processing etc.....
what is reproduction
Reproduction is a fundamental feature of all known life,each individual organism exist as a result of re production.....or else Multiplying...
a complete virus particle known as
Darlington Reply
These are formed from identical protein subunitscalled capsomeres.
fabace family plant name
Pushpam Reply
in eukaryotes ...protein channel name which transport protein ...
Pushpam Reply
in bacteria ...chromosomal dna duplicate structure called
what is a prokaryotic cell and a eukaryotic cell
Matilda Reply
There are two types of cells. Eukaryotic and Prokaryotic cells. Prokaryotic cells don't have a nucleus or membrane enclosed organelles (little organs within that cell). They do however carry genetic material but it's not maintained in the nucleus. Prokaryotic cells are also one celled.
Prokaryotic cells are one celled (single celled).
Prokaryotic cells are Bacteria and Archea
Prokaryotic cells are smaller than Eukaryotic cells.
Eukaryotic cells are more complex. They are much bigger than Prokaryotic cells.
Eukaryotic cells have a nucleus and membrane bound organelles.
Eukaryotic cells are animals cells which also includes us.
Eukaryotic cells are also multicellular.
nice explaination
eukaryotic cells are individual cells .. but eukaryotes are multicellular organisms which consist of many different types of eukaryotic cells
also eukaryotic cells have mitochondria. prokaryotic cells do not
in prokaryotes only ribosomes are present... in eukaryotes mitochondria ...glogi bodies ..epidermis .....prokaryotes one envelop but eukaryotes compartment envelop....envelop mean membrane bound organelles......
prokaryotic cell are cells dat have no true nuclei i.e no cell membrane while eukaryotic cell are cell dat have true nuclei i.e have cell membrane
we have 46 pair of somatic cell and 23 pair of chromosomes in our body, pls can someone explain it to me. pls
Matilda Reply
we have 22 pairs of somatic chromosomes and one pair of sex chromosome
we have 23 pairs of chromosomes,22 pairs of somatic and one pair of sex chromosomes
23 chromosomes from dad & 23 chromosomes from mom 23 +23=46 total chromosomes
X & Y chromosomes are called sex cells, the very presence of a Y chromosome means the person is Male.
XX Female XY Male
If a Karyotype has more than 46 Chromosomes then nondisjunction occured. For example, having an extra chromosome 21 will cause Down Syndrome.
in mammal state the different vertebrae and their location in the body
Igbinigie Reply

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?