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Lecture 1D - Pseudoallelism

Pseudogenes are defective copies of functional genes that arise through duplication and mutation. Pseudoalleles are genes that are located very close together physically and have low recombination frequencies but still allow some recombination. Examples of pseudogenes in humans and mice include non-functional copies of alpha and beta globin genes that contain mutations preventing translation. In Drosophila, pseudoalleles were first discovered at the lozenge locus, where two mutant alleles (lz1 and lz2) could occasionally produce wild type offspring, indicating they allowed some recombination despite their close proximity and lack of complementation.

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98 views

Lecture 1D - Pseudoallelism

Pseudogenes are defective copies of functional genes that arise through duplication and mutation. Pseudoalleles are genes that are located very close together physically and have low recombination frequencies but still allow some recombination. Examples of pseudogenes in humans and mice include non-functional copies of alpha and beta globin genes that contain mutations preventing translation. In Drosophila, pseudoalleles were first discovered at the lozenge locus, where two mutant alleles (lz1 and lz2) could occasionally produce wild type offspring, indicating they allowed some recombination despite their close proximity and lack of complementation.

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LAKSHAY VIRMANI
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© © All Rights Reserved
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Download as PDF, TXT or read online on Scribd
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PSEUDOALLELISM

✓ It is the phenomenon shown by pseudoalleles.


✓ The term pseudoallele was given by Morgan (1928) and Lewis (1948).
✓ These are located very near in a physical map and interpreted as closely linked & functionally related
genes.
✓ A cluster of pseudoalleles is known as pseodoallele series/ a complex locus/complex region.
✓ Pseudoalleles governs different expression of same trait means they are functionally related.
✓ They considered to occupy same locus which is divided into sub loci means they occupy different
positions but on same complex locus.
✓ They exhibit low frequency of genetic recombination by crossing over means they have very low
recombination frequency, but still recombination can take place.
✓ They exhibit cis-transition effect.
✓ Trans-heterozygotes produce mutant phenotypes but cis-heterozygotes produce wild type phenotype.

Pseudogenes-
✓ In muiticellular organisms, a wide variety of DNA sequences are found, which are of no apparent use.
✓ Some of these sequences are defective copies of functional genes and are, therefore, called
pseudogenes.
✓ These pseudogenes have been reported in human beings, mouse and Drosophila.

Examples of Pseudogenes-
✓ The most popular examples of these pseudogenes include the following,
(i) Human α-globin and β-globin pseudogenes, found in each of the two globin gene clusters.
Complete nucleotide sequence of pseudo alpha globin gene is now known and it has been
shown that both these genes are non-translatable, since they may have mutations in initiation
codon and also frame-shift mutations along their length,
(ii) In mouse also there are two alpha globin pseudogenes (ψ), one of them (ψα3) is
different from other pseudogenes since it has no introns which are present in functional α-
globin genes as well as in other pseudogenes.

Pseudo allelism in Drosophila -


✓ According to shape:
a) Lozenge eye in Drosophila
b) Asteroid eye in Drosophila
✓ According to color:
a) Red color eye of drosophila can have different mutants like white and apricot.
✓ The criteria for allelism include lack of recombination and lack of complementation between two
mutant alleles of the same gene.
✓ Allelomorphs or alleles are the alternative forms of same gene.
✓ This classical concept of alleles needed change in view of intensive work done after 1940, initially
in Drosophila and later in several other organisms.
✓ In Drosophila, a recessive sex linked mutant called lozenge (lz) is responsible for smaller, darker and
more elliptically shaped eyes.
✓ A number of mutants at this locus were discovered and could be identified due to severity of effect on
eye and also due to other phenotypic effects.
✓ Ordinarily a fly heterozygous for two lozenge mutant alleles (lz1/lz2) will not yield wild type in its
progeny, because wild allele is absent.
✓ However in 1940, Oliver discovered wild type flies in progeny of such heterozygotes, with a frequency
of one in several thousands.
✓ This frequency was still much higher than expected on the basis of spontaneous mutation rates known.
✓ In view of this, the results could not be easily explained and the lozenge locus was then thoroughly
studied by M.M. Green, a student of Oliver.

Figure 1: Pseudoallelism in Drosophila

✓ Following Sturtevant's technique with Bar locus, Green marked the lozenge locus on either side by
marker genes to confirm if the wild type appeared due to recombination.
✓ If wild type was the result of recombination, Green expected that marker genes would also recombine.
✓ In his experiments, Green observed that not only wild type flies appeared for lozenge, but the marker
genes a and b also recombined suggesting that lz1 and Iz2 could recombine.
✓ This suggested that two mutants may be separated by a distance within the gene.

Figure 2: Formation of Pseudogenes


✓ In the example of lozenge gene, mutant alleles apparently recombined and therefore proved to be
nonallelic according to the classical concept of allelomorphism described earlier.
✓ Since these alleles behaved as non-allelic, Lewis preferred to call them pseudoalleles and the
phenomenon as pseudoallelism.
✓ The another geneticist Pontecorvo later however argued that since our concept of allelism has changed
and that the classical concept of alleles has been modified in view of this work, it is needless to call
this phenomenon as pseudoallelism and the elements as pseudoalleles.
✓ He, instead, suggested that the phenomenon be called Lewis effect and the mutant elements be called
alleles as earlier.

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