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. 2011 May 31;2:8. doi: 10.1186/1759-8753-2-8

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