Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints

BMC Genomics

Table 1 Quadruplex forming potential (QFP) and other structural motifs analyzed for minimum distance relationship to 5’ or 3’ human mtDNA deletion breakpoints

		Actual/control average distance
		5′ breakpoints(620)		3′ breakpoints(497)
Motif	#	b-p to motif	Motif to b-p	b-p to motif	Motif to b-p	Length(nt)	Example
3G QFP	9	447/667	14/74***	742/667	48/224*	<33	GGG-GGG-GGG-GGG
2G QFP	178	26/36***	79/74	23/36**	186/224*	<33	GG-GG-GG-GG
SC structures	405	15/14	76/74	14/14	262/224	<100
direct rpts.	137	44/63*	80/74	42/63*	200/224	11	ATC-ATC
inverted comp. rpts.	56	98/113	58/74	120/113	287/224	11	ATC-GAT
complementary rpts.	35	210/248	61/74	316/248	314/224	11	ATC-TAG
inverted rpts.	133	51/58	87/74	44/58	205/224	11	ATC-CTA

3G QFP and 2G QFP analyzed for breakpoints (b-p) to motif association and motif to b-p association for both 5′ and 3′ breakpoints. Actual and control distances are provided (rounded to the nearest integer). SC structure and sequence repeat predictions. At right, dashes in examples represent loops or intervening sequence. The frequency at which the control data showed a shorter average distance was tabulated to determine the p-value (* < 0.05; ** < 0.01, *** < 0.001; exact values shown in Additional file 2: Table S1). Statistically significant associations are indicated in bold.

ISSN: 1471-2164