Table 6.
Specific Examples of transposable elements (TEs) implicated in primate-specific traits: metabolic and other
TE generated trait | Gene affected | Gene function | TE responsible | Distributiona | Type of event | Effect | Tissue expression | Type of TE-Thrust | Reference |
---|---|---|---|---|---|---|---|---|---|
RNF19A | Ubiquitin ligase | Alu | > Human | Exonization | Novel isoform | Various | Active | Huh et al., 2008 [157] | |
BCL2L11 | Pro-apoptotic | Alu | > Human | Exonization | Novel isoform | Various | Active | Wu et al., 2007 [158] | |
BCL2L13 | Pro-apoptotic | Alu | > Human | Exonization | Novel isoform | Various (cytosolic instead of mitochondrial) | Active | Yi et al., 2003 [159] | |
SFTPB | Pulmonary surfactant | Alu/ERVb | Primate | Exonization | Novel isoform | Various | Active | Lee et al., 2009 [160] | |
Efficiency of ZNF177 transcription and translation | ZNF177 | Transcriptional regulator | Alu/LINE-1c/ERV | > Human | Exonization | Novel isoform | Various | Active | Landry et al., 2001 [161] |
Production of salivary amylase | AMY1s | Starch digestion | ERV | Old World primate | Regulatory | Major promoter | Salivary gland | Active | Ting et al., 1992 [99] |
BAAT | Bile metabolism | ERV | > Human | Regulatory | Major promoter | Liver | Active | van de Lagemaat et al., 2003 [73] | |
CETP | Cholesterol metabolism | Alu | > Human | Regulatory | Negative regulation | Liver | Active | Le Goff et al., 2003 [162] | |
Absence of FMO1 in adult liver/altered drug metabolism? | FMO1 | Xenobiotic metabolism | LINE-1 | > Human | Regulatory | Negative regulation in liver | Kidney | Active | Shephard et al., 2007 [163] |
RNF19A | Ubiquitin ligase | LTRd | > Human | Regulatory | Alternative promoter | Various | Active | Huh et al., 2008 [157] | |
APOC1 | Lipid metabolism | ERV | Ape | Regulatory | Alternative promoter | Various | Active | Medstrand et al., 2001 [134] | |
KRT18 | Epithelial keratin | Alu | > Human | Regulatory | Retinoic acid responsiveness | Various | Active | Vansant and Reynolds, 1995 [77] | |
PTH | Parathyroid hormone | Alu | > Old World primate | Regulatory | Negative calcium responsiveness | Parathyroid gland | Active | McHaffie and Ralston, 1995 [164] | |
PRKACG | cAMP signalling/regulation of metabolism | Unknown | > Old World primate | Retrotransposition | Novel gene | Various | Active | Reinton et al., 1998 [165] | |
NBR2 | Unknown | Alu | Old World primate | Duplication | Novel gene | Various | Passive | Jin et al., 2004 [166] | |
LRRC37A | Unknown | Alu | Old World primate | Duplication | Novel genes | Various | Passive | Jin et al., 2004 [166] | |
ARF2 | GTPase/vesicle trafficking | Alu | Great ape | Inversion | Novel fusion gene | Various | Passive | Jin et al., 2004 [166] | |
Altered arterial wall function? | ELN | Elastin | Alu | > Old World primate/human | Deletion | Exon losses | Various | Passive | Szabo et al., 1999 [167] |
Low body mass? | ASIP | Energy metabolism/pigmentation | Alu | Lesser ape (gibbon) | Deletion | Gene loss | Various | Passive | Nakayama and Ishida, 2006 [101] |
a > = Maximum known distribution.
bERV = endogenous retrovirus
cLINE = long interspersed nuclear element
dLTR = long terminal repeat