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. Author manuscript; available in PMC: 2013 Jun 24.
Published in final edited form as: Nat Rev Genet. 2009 Jan;10(1):19–31. doi: 10.1038/nrg2487

Table 1.

Representative retrogenes in mammals and fruitflies.

Genes Phylogenetic
distribution
Features (Chromosomal origin / structure / type of selection /
function)
References
Primates
GLUD2 Hominoids Into X, positive selection, subcellular adaptation, adaptation to
(neurotransmitter) glutamate metabolism
23,67
CDC14Bretro Hominoids Positive selection, subcellular adaptation, derived from cell cycle
gene, brain/testis-specific expression
37,65
c1orf37-dup Humans Positive selection, transmembrane protein 66
PGAM3 Old World primates Positive selection, phosphoglycerate mutase 64
TRIM5-CypA
gene
Macaque lineage Chimeric gene, retrovirus restriction, CypA portion derives from
retroposition
72-74
TRIM5-CypA
gene
New World monkeys Chimeric gene, retrovirus restriction, CypA portion derives from
retroposition
20
PIP5K1A-
PSMD4 retrogene
Hominoids Chimeric gene, positive selection, subcellular change, fusion
retrogene; stems from chimeric transcript of two adjacent parental
genes
75
TAF1L, KIF4B Old World primates X-derived 37,101
RBMXL1 Old World primates X-derived, chimeric gene, fusion to host gene UTR
Utp14c Primates X-derived, chimeric gene, evidence for it to be required for male
fertility, fusion to host gene UTR
40
Rodents
Utp14b Rodents X-derived, chimeric gene, required for male fertility, fusion to host
gene UTR exon
41,42
U2af1-rs1 Rodents X-derived, paternally imprinted 57
PMSE2b Mouse* Inserted into a LINE1 which drives its transcription 51
Mammals
Cstf2t All Mammals X-derived, chimeric gene, required for male fertility, crucial for
proper polyadenylation in meiosis/post-meiosis
43
HNRNPGT Therians X-derived, required for male fertility 44
Pgk2 Eutherians X-derived, promoter inherited from parent, acquisition of a testisspecific
enhancer, first described X-derived retrogene
14,60
Inpp5f, Nap1/5,
Mcts2
Eutherians X-derived, paternally imprinted, located in introns of host genes 57
KLF14 Eutherians Maternally imprinted, accelerated evolution on the human lineage 58
USP26 Eutherians Into X, among the 5 most positively selected gene in human-chimp
comparison
102
Drosophila
jingwei (jgw) D. yakuba, santomea
and teisseri
Chimeric gene, positive selection, retrocopy encoded ADH domain
evolved new substrate (alcohol) specificity
21,48
Sphinx( spx) D. melanogaster Chimeric gene, positive selection, retrocopy evolved into non-
coding RNA gene that promotes male-female courtship
24,49
Adh-Twain D. subobscura,
guanche and
madeirensis
Chimeric gene, positive selection, putative functional adaptation to
new substrate specificity
103
mojoless (mjl) Drosophila genus X-derived, required for male fertility 104
Dntf-2r D. melanogaster
subgroup
Substitutions in an upstream proto-promoter element appear to have
provided this gene with a new, testis-specific promoter

The cases listed here are representative of the different mechanisms that lead to the formation of retrogenes, their chromosomal distribution, and the type of function they may obtain. We refer to most of these genes in the main text.

*

Identified in mouse, phylogenetic distribution not established.