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 4 Specific examples of transposable elements (TEs) implicated in primate-specific traits: reproduction and development

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
Placental morphogenesis	Syncytin-1	Trophoblast cell fusion	ERV^b	Ape	Domestication	Novel gene	Placenta	Active	Mi et al., 2000 [92]
Placental morphogenesis	Syncytin-2	Trophoblast cell fusion	ERV	Simian	Domestication	Novel gene	Placenta	Active	Blaise et al., 2003 [93]
	HERVV1	Unknown	ERV	Simian	Domestication	Novel gene	Placenta	Active	Kjeldbjerg et al., 2008 [115]
	HERVV2	Unknown	ERV	Simian	Domestication	Novel gene	Placenta	Active	Kjeldbjerg et al., 2008 [115]
	ERV3	Development and differentiation?	ERV	Old World primate	Domestication	Novel gene	Placenta, various	Active	Larsson et al., 1994 [116]
	DNMT1	DNA methylation	Alu	>Afr. great ape	Exonization	Novel isoform	Fetal, various	Active	Hsu et al., 1999 [117]
	LEPR	Leptin receptor	SVA	Human	Exonization	Novel isoform	Fetal liver	Active	Damert et al., 2004 [118]
	IL22RA2	Regulation of inflammatory responses/interleukin-22 decoy receptor	LTR^c	Great ape	Exonization	Novel isoform	Placenta	Active	Piriyapongsa et al., 2007 [119]
	PPHLN1	Epithelial differentiation/nervous-system development	ERV/Alu/LINE-1^d	Ape	Exonization	Novel isoforms	Fetal, various	Active	Huh et al., 2006 [120]
	CGB1/2	Chorionic gonadotropin	Alu (snaR-G1/2)	Afr. great ape	Regulatory	Major promoter	Testis	Active	Parrott and Mathews, 2009 [105]
	GSDMB	Epithelial development	Alu	Ape	Regulatory	Major promoter	Stomach	Active	Komiyama et al., 2010 [121]
	HYAL4	Hyaluronidase	LINE-1/Alu	>Human	Regulatory	Major promoter	Placenta	Active	van de Lagemaat et al., 2003 [73]
Placental oestrogen synthesis	HSD17B1	Oestrogen synthesis	ERV	>Human	Regulatory	Major promoter	Ovary, placenta	Active	Cohen et al., 2009 [122]
Placental development	INSL4	Regulation of cell growth and metabolism	ERV	Old World primate	Regulatory	Major promoter	Placenta	Active	Bieche et al., 2003 [123]
	DSCR4	Unknown reproductive function	ERV	Ape	Regulatory	Major promoter	Placenta, testis	Active	Dunn et al., 2006 [124]
	DSCR8	Unknown reproductive function	ERV	>Ape	Regulatory	Major promoter	Placenta, testis	Active	Dunn et al., 2006 [124]
	CGA	Common subunit of chorionic gonadotropin, luteinizing, follicle-stimulating and thyroid-stimulating hormones	Alu	>Simian	Regulatory	Negative regulation	Placenta, pituitary gland	Active	Scofield et al., 2000 [125]
Globin switching	HBE1	Embryonic oxygen transport	Alu	>Human	Regulatory	Negative regulation	Fetal	Active	Wu et al., 1990 [126]
	GH	Growth hormone	Alu	>Human	Regulatory	Negative regulation	Pituitary gland	Active	Trujillo et al., 2006 [127]
	WT1	Urogenital development	Alu	>Human	Regulatory	Negative regulation	Urogenital	Active	Hewitt et al., 1995 [128]
Efficient placental gas exchange	HBG1	Fetal oxygen transport	LINE-1	Old World primate	Regulatory	Tissue-specific enhancer	Fetal	Active	Johnson et al., 2006 [91]
Placental leptin secretion	LEP	Metabolic regulatory hormone	LTR	>Human	Regulatory	Tissue-specific enhancer	Placenta	Active	Bi et al., 1997 [129]
	MET	Hepatocyte growth-factor receptor	LINE-1	> Afr. great ape	Regulatory	Alternative promoter	Liver, Pancreas, Lung	Active	Nigumann et al., 2002 [71]
	BCAS3	Embryogenesis/erythropoiesis	LINE-1	> Afr. great ape	Regulatory	Alternative promoter	Fetal, various	Active	Wheelan et al., 2005 [130]
	CHRM3	Synaptic transmission	LINE-1	Human	Regulatory	Alternative promoter	Placenta	Active	Huh et al., 2009 [131]
	CLCN5	Chloride transporter	LINE-1	>Human	Regulatory	Alternative promoter	Placenta	Active	Matlik et al., 2006 [132]
	SLCO1A2	Organic anion transporter	LINE-1	>Human	Regulatory	Alternative promoter	Placenta	Active	Matlik et al., 2006 [132]
	CHRM3	Synaptic transmission	LTR	Human	Regulatory	Alternative promoter	Testis	Active	Huh et al., 2009 [131]
	IL2RB	Growth-factor receptor	LTR	>Human	Regulatory	Alternative promoter	Placenta	Active	Cohen et al., 2009 [122]
Placental development	ENTPD1	Thromboregulation	LTR	>Human	Regulatory	Alternative promoter	Placenta	Active	van de Lagemaat et al., 2003 [73]
	MKKS	Molecular chaperone	LTR/LINE-2	>Human	Regulatory	Alternative promoter	Testis, fetal	Active	van de Lagemaat et al., 2003 [73]
	NAIP	Anti-apoptosis	ERV	>Human	Regulatory	Alternative promoter	Testis	Active	Romanish et al., 2007 [133]
	EDNRB	Placental development/circulation	ERV	>Human	Regulatory	Alternative promoter	Placenta	Active	Medstrand et al., 2001 [134]
Placental development	PTN	Growth factor	ERV	Ape	Regulatory	Alternative promoter	Trophoblast	Active	Schulte et al. 1996 [135]
	MID1	Cell proliferation and growth	ERV	Old World primate	Regulatory	Alternative promoter	Placenta, fetal kidney	Active	Landry et al., 2002 [136]
	NOS3	Endothelial nitric oxide synthesis	ERV	>Human	Regulatory	Alternative promoter	Placenta	Active	Huh et al., 2008 [137]
	GSDMB	Epithelial development	ERV	Ape	Regulatory	Alternative promoter	Various	Active	Sin et al., 2006 [138]
Placental oestrogen synthesis	CYP19	Oestrogen synthesis	ERV	Simian	Regulatory	Alternative promoter	Placenta	Active	van de Lagemaat et al., 2003 [73]
	AMACs	Fatty-acid synthesis	SVA	Afr. great ape	Retrotransposition	Novel genes	Placenta, testis	Active	Xing et al., 2006 [139]
	POTEs	Pro-apoptosis/spermatogenesis	LINE-1	Ape	Retrotransposition	Novel fusion genes	Testis, ovary, prostate, placenta	Active	Lee et al., 2006 [140]
	PIPSL	Intracellular protein trafficking	LINE-1	>Great ape	Retrotransposition	Novel fusion gene	Testis	Active	Babushok et al., 2007 [141]
	CDYs	Chromatin modification	Unknown	Simian	Retrotransposition	Novel genes	Testis	Active	Lahn and Page, 1999 [142]
	ADAM20/21	Membrane metalloprotease	Unknown	>Human	Retrotransposition	Novel genes	Testis	Active	Betran and Long, 2002 [143]
Placental growth hormone secretion	GH	Placental growth hormone	Alu	Simian	Duplication	Novel genes	Placenta	Passive	De Mendoza et al., 2004 [88]
	Chr19 miRNAs	Unknown	Alu	Simian	Duplication	Novel genes	Placenta	Passive	Zhang et al., 2008 [144]
Enhanced immune tolerance at fetal-maternal interface	LGALS13/14/16	Carbohydrate recognition/immune regulation	LINE-1	Simian	Duplication	Novel genes	Placenta	Passive	Than et al., 2009 [145]
Efficient placental gas exchange	HBG2	Fetal oxygen transport	LINE-1	Simian	Duplication	Novel gene	Fetal	Passive	Fitch et al., 1991 [90]

^a > = Maximum known distribution.
^bERV = endogenous retrovirus
^cLTR = long terminal repeat
^dLINE = long interspersed nuclear element

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ISSN: 1759-8753

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