Mobile DNA and the TE-Thrust hypothesis: supporting evidence from the primates

Oliver, Keith R; Greene, Wayne K

doi:10.1186/1759-8753-2-8

Mobile DNA

Table 6 Specific Examples of transposable elements (TEs) implicated in primate-specific traits: metabolic and other

From: Mobile DNA and the TE-Thrust hypothesis: supporting evidence from the primates

TE generated trait	Gene affected	Gene function	TE responsible	Distribution^a	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/ERV^b	Primate	Exonization	Novel isoform	Various	Active	Lee et al., 2009 [160]
Efficiency of ZNF177 transcription and translation	ZNF177	Transcriptional regulator	Alu/LINE-1^c/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	LTR^d	> 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

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ISSN: 1759-8753

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