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'Orphan' Retrogenes in the Human Genome
- Source :
- Molecular Biology and Evolution
- Publication Year :
- 2012
- Publisher :
- Oxford University Press (OUP), 2012.
-
Abstract
- Gene duplicates generated via retroposition were long thought to be pseudogenized and consequently decayed. However, a significant number of these genes escaped their evolutionary destiny and evolved into functional genes. Despite multiple studies, the number of functional retrogenes in human and other genomes remains unclear. We performed a comparative analysis of human, chicken, and worm genomes to identify “orphan” retrogenes, that is, retrogenes that have replaced their progenitors. We located 25 such candidates in the human genome. All of these genes were previously known, and the majority has been intensively studied. Despite this, they have never been recognized as retrogenes. Analysis revealed that the phenomenon of replacing parental genes with their retrocopies has been taking place over the entire span of animal evolution. This process was often species specific and contributed to interspecies differences. Surprisingly, these retrogenes, which should evolve in a more relaxed mode, are subject to a very strong purifying selection, which is, on average, two and a half times stronger than other human genes. Also, for retrogenes, they do not show a typical overall tendency for a testis-specific expression. Notably, seven of them are associated with human diseases. Recognizing them as “orphan” retrocopies, which have different regulatory machinery than their parents, is important for any disease studies in model organisms, especially when discoveries made in one species are transferred to humans.
- Subjects :
- Male
Retroelements
Pseudogene
Molecular Sequence Data
ved/biology.organism_classification_rank.species
Biology
Genome
Mice
03 medical and health sciences
0302 clinical medicine
Phylogenetics
Gene Order
Gene duplication
Genetics
Animals
Cluster Analysis
Humans
Amino Acid Sequence
Model organism
Molecular Biology
Gene
Genetic Association Studies
Phylogeny
Discoveries
Ecology, Evolution, Behavior and Systematics
030304 developmental biology
Paraplegia
retrogene
0303 health sciences
Endosomal Sorting Complexes Required for Transport
Genome, Human
ved/biology
Gene Expression Profiling
gene duplication
human genetic disease
Gene expression profiling
MicroRNAs
gene expression
Human genome
Sequence Alignment
Pseudogenes
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 15371719 and 07374038
- Volume :
- 30
- Database :
- OpenAIRE
- Journal :
- Molecular Biology and Evolution
- Accession number :
- edsair.doi.dedup.....7051fd99b421bd902359c3074a25b966