Submitted by: Jochelle M. Santos 8-Porifera Submitted to: Ms.

Maelyn Camposano

An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end. An inversion occurs when a single chromosome undergoes breakage and rearrangement within itself. Inversions are of two types: paracentric and pericentric.

Paracentric inversions do not include the centromere and both breaks occur in one arm of the chromosome. Pericentric inversions include the centromere and there is a break point in each arm.

Cytogenetic techniques may be able to detect inversions, or inversions may be inferred from genetic analysis. Nevertheless, in most species small inversions go undetected. In insects with polytene chromosomes for example Drosophila preparations of larval salivary gland chromosomes allow inversions to be seen when they are heterozygous. This useful characteristic of polytene chromosomes was first advertised by Theophilus Shickel Painter in 1933.

Inversions usually do not cause any abnormalities in carriers as long as the rearrangement is balanced with no extra or missing DNA. However, in individuals which are heterozygous for an inversion, there is an increased production of abnormal chromatids (this occurs when crossing-over occurs within the span of the inversion). This leads to lowered fertility due to production of unbalanced gametes.

The most common inversion seen in humans is on chromosome 9. This inversion is generally considered to have no deleterious or harmful effects, but there is some suspicion it could lead to an increased risk for miscarriage or infertility for some affected individuals.

An inversion does not involve a loss of genetic information, but simply rearranges the linear gene sequence.

Families that may be carriers of inversions may be offered genetic counseling and genetic testing.

A chromosome mutation is an unpredictable change that occurs in a chromosome. These changes are most often brought on by problems that occur during meiosis (cell division process of gametes) or by mutagens (chemicals, radiation, etc.). Chromosome mutations can result in changes in the number of chromosomes in a cell or changes in the structure of a chromosome. Unlike a gene mutation which alters a single gene or larger segment of DNA on a chromosome, chromosome mutations change and impact the entire chromosome.

If two breaks occur in one chromosome, sometimes the region between the breaks rotates 180 degrees before rejoining with the two end fragments. Such an event creates a chromosomal mutation called an inversion.

Unlike deletions and duplications, inversions do not change the overall amount of the genetic material, so inversions are generally viable and show no particular abnormalities at the phenotypic level. In some cases, one of the chromosome breaks is within a gene of essential function, and then that breakpoint acts as a lethal gene mutation linked to the inversion.

In such a case, the inversion could not be bred to homozygosity. However, many inversions can be made homozygous; furthermore, inversions can be detected in haploid organisms. In these cases, the breakpoint is clearly not in an essential region. Some of the possible outcomes of inversion at the DNA level are shown in figure below.

Most analyses of inversions use heterozygous inversionsdiploids in which one chromosome has the standard sequence and one carries the inversion. Microscopic observation of meioses in inversion heterozygotes reveals the location of the inverted segment because one chromosome twists once at the ends of the inversion to pair with the other, untwisted chromosome; in this way the paired homologs form an inversion loop

Substitution: This kind of mutation switches with another base to create an irregular sequence. ex:) NORMAL - ABCDEFG SUBSTITUTION - BACDEFG

Insertion: This kind of mutation involves the insertion of an extra base to the sequence. ex:) NORMAL - ABCDEFG INSERTION - ABHCDEFG

Deletion: This kind of mutation deletes or loses one of the bases in the sequence. ex:) NORMAL - ABCDEFG DELETION - ACDEFG

Frameshifts: This kind of mutation is where a sequence has an insertion or deletion, altering it. Since the sequence is divided into three bases to each section, which are called codons, the insertion or deletion of one of the bases can alter the codons completely, creating a different sequence, known as a frameshift. ex:) NORMAL - ABC DEF GHI FRAMESHIFT - BCD EFG HI

Most of the time chromosomal mutations are the so call cause or mechanism for evolution but as you can see there are not any positive affect of chromosomal mutations. 1) Lethal mutations Cancer 2)Downs syndrome Loss-of-function mutations 3)Gain-of-function mutations there many be some short sighted gain yet not seen anything that is over all positive. 4) Marfan syndrome Dominant negative mutations