NDLI: The β-esterase Gene Cluster of Drosophila melanogaster: is ψEst-6 a Pseudogene, a Functional Gene, or both?

Content Provider	Springer Nature Link
Author	Balakirev, Evgeniy S. Ayala, Francisco J.
Copyright Year	2004
Abstract	Pseudogenes have been defined as non-functional sequences of genomic DNA that are originally derived from functional genes, but exhibit degenerative features such as premature stop codons and frameshifts that prevent their expression. However, there is increasing evidence that pseudogenes are often evolutionarily conserved and may have retained some functional role or acquired new ones. Pseudogenes may exhibit non-functional features as well as functional ones. We investigate, as a model case, the β-esterase gene cluster of Drosophila melanogaster that includes the Est-6 gene and the ψEst-6 putative pseudogene. We study four samples derived from natural populations of east Africa (Zimbabwe), Europe (Spain), North America (California), and South America (Venezuela). The level of nucleotide diversity is higher in Africa than in the non-African populations. There is twice more nucleotide diversity in ψEst-6 than in Est-6. Linkage disequilibrium within the β-esterase gene cluster is strong in non-African samples, but much lower in Africa. The population recombination rate is the same for ψEst-6 and Est-6 in Africa, but significantly different in non-African samples. Intragenic gene conversion events are detected within Est-6 and, with much higher incidence, within ψEst-6; intergenic gene conversion events are rare. The extensive intragenic gene conversion within ψEst-6 can be explained by the invasion of retrotransposons that promote a form of homology-dependent gene conversion upon excision. Tests of neutrality with recombination are significant for the β-esterase gene cluster in the non-African populations but not in Africa. The Est-6 gene sequences exhibit a well-known allozyme dimorphic structure. The sequences of ψEst-6 are also dimorphic in North and South America, but they do not correspond at all (South America) or only imperfectly (North America) to the Est-6 allozyme dimorphism. Sequence dimorphism is less pronounced in the European and African samples. We suggest that demographic history (bottleneck and admixture of genetically differentiated populations) is the major factor shaping the nucleotide pattern in the β-esterase gene cluster. However, there are some clear indications of positive selection shaping the distribution of nucleotide polymorphism within the cluster. Intergenic epistatic selection may play an important role in the evolution of the β-esterase gene cluster, preserving ψEst-6 from degenerative destruction and reflecting its functional interaction with Est-6. The Est-6 gene cluster of D. melanogaster represents an example of a functionally interacting complex ('intergene') in which two components (Est-6 and ψEst-6) or more are required to perform the final function.
Starting Page	165
Ending Page	179
Page Count	15
File Format	PDF
ISSN	00166707
Journal	Genetica
Volume Number	121
Issue Number	2
e-ISSN	15736857
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2004-01-01
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Microbial Genetics and Genomics Animal Genetics and Genomics
Content Type	Text
Resource Type	Article
Subject	Genetics Plant Science Medicine Animal Science and Zoology Insect Science

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