^{If you are interested in an updated catalogue of mtDNA rearrangements from diverse species please visit the MitoBreak database}

Supplementary data

“Mitochondrial DNA rearrangements in health and disease - a comprehensive study”

Joana Damas, David C Samuels, João Carneiro, António Amorim and Filipe Pereira. 2013. Accepted.
DOI: 10.1002/humu.22452

• Deletions ↓ Main table | Breakpoints | Junctions | Missing sites | References
• Duplications ↓ Main table | Breakpoints | Junctions | Duplicated sites | References

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Duplication of replication origins Location of the duplicated region Truncated or fused proteins 1-Single mtDNA deletions 2-Multiple mtDNA deletions 3-Healthy tissues 4-Parkinson Disease 5-Inclusion Body Myositis 6-Tumour 7-Other clinical features Detection methods Restriction enzymes Number of publications All

5' breakpoint	3' breakpoint	Duplicated region	Duplication length - bp	Partially duplicated molecule length - bp	Duplication of replication origins	Location of the duplicated region	Truncated or fused proteins	1-Single mtDNA deletions	2-Multiple mtDNA deletions	3-Healthy tissues	4-Parkinson Disease	5-Inclusion Body Myositis	6-Tumour	7-Other clinical features	Detection methods	Restriction enzymes	Number of publications	References
5' breakpoint	3' breakpoint	Duplicated region	Duplication length - bp	Partially duplicated molecule length - bp	Duplication of replication origins	Location of the duplicated region	Truncated or fused proteins	1-Single mtDNA deletions	2-Multiple mtDNA deletions	3-Healthy tissues	4-Parkinson Disease	5-Inclusion Body Myositis	6-Tumour	7-Other clinical features	Detection methods	Restriction enzymes	Number of publications	References
469	314	314-469	156	16725	OH	Duplicating part of minor and major arcs	Control Region	PEO		Control					PCR	None	1	[8]
493	301	301-493	193	16762	OH	Duplicating part of minor and major arcs	Control Region		Mitochondrial myopathy	Aged tissues; control					Southern or vaccum blot; PCR	AluI; DdeI; HaeIII; HinfI; TaqI; BstNI; HpaI; BamHI; HaeII; MspI; AvaII; HincII	3	[10; 11; 18]
498	306	306-498	193	16762	OH	Duplicating part of minor and major arcs	Control Region	PEO		Control					PCR	None	1	[8]
563	360	360-563	204	16773	OH	Duplicating part of minor and major arcs	Control Region							Muscular exercise intolerance; Ataxia and lipomatosis; Sun-exposed skin	PCR; Southern blot	MspI; BamHI; EcoRV; HpaI	1	[2]
567	301	301-567	267	16836	OH	Duplicating part of minor and major arcs	Control Region			Aged tissues					PCR; Sequecing	None	1	[18]
573	309	309-573	265	16834	OH	Duplicating part of minor and major arcs	Control Region	KSS	Mitochondrial myopathy	Control				Sun-exposed skin	Southern or vaccum blot; PCR; Sequencing	AluI; DdeI; HaeIII; HinfI; TaqI; HpaI; BamHI; HaeII; MspI; AvaII; HaeII; HhaI; HincII; MboI; RsaI; BstNI	4	[6; 10; 11; 30]
573	316	316-573	258	16827	OH	Duplicating part of minor and major arcs	Control Region	PEO		Control					PCR	None	1	[8]
965	315	315-965	651	17220	OH	Duplicating part of minor and major arcs	RNR1/Control Region	PEO		Control				Exercise intolerance; Sun-exposed skin	PCR; Sequencing	None	2	[8; 21]
2059	16071	16071-2059	2558	19127	OH	Duplicating part of minor and major arcs	RNR2/Control Region			Aged tissues					PCR	KpnI; XbaI	1	[1]
3325	13452	13452-3325	6443	23012	OH	Duplicating part of minor and major arcs	ND5/ND1							Diabetes mellitus	Southern blot; PCR; Sequencing	PvuII; HpaI; PstI	1	[13]
3567	15548	15548-3567	4589	21158	OH	Duplicating part of minor and major arcs	ND1/CYTB							Late-onset myopathy	Southern blot; PCR; Sequencing	PvuII; BamHI; SnaBI	1	[22]
3577	15547	15547-3577	4600	21169	OH	Duplicating part of minor and major arcs	ND1/CYTB							Late-onset progressive myopathy	Southern blot; PCR	PvuII; BamHI; SnaBI; SmaI	2	[7; 28]
4398	14882	14882-4398	6086	22655	OH	Duplicating part of minor and major arcs	TRNQ/CYTB							Diabetes mellitus	Southern blot	PvuII; BamHI	1	[23]
5782	14302	14302-5782	8050	24619	OL and OH	Duplicating part of minor and major arcs	TRNC/ND6	KSS							Southern blot; PCR; Sequencing	PvuI; SnaBI	1	[16]
5789	15450	15450-5789	6909	23478	OL and OH	Duplicating part of minor and major arcs	TRNC/CYTB							Mitochondrial encephalomyopathy + hypoparathyrodism	Southern blot; PCR; Sequencing	PvuII; PstI	1	[20]
5940	14289	14289-5940	8221	24790	OL and OH	Duplicating part of minor and major arcs	COX1/ND6	KSS							Southern blot; PCR; Sequencing	PvuII; SnaBI/BglII	1	[29]
6000	14911	14911-6000	7659	24228	OL and OH	Duplicating part of minor and major arcs	COX1/CYTB							Mild mitochondrial encephalomyopathy	Southern blot	PvuII; BamHI	1	[4]
6021	14848	14848-6021	7743	24312	OL and OH	Duplicating part of minor and major arcs	COX1/CYTB	PEO							Southern blot; PCR	PvuII; SmaI; SnaBI	1	[28]
6125	15611	15611-6125	7084	23653	OL and OH	Duplicating part of minor and major arcs	COX1/CYTB	KSS							Southern blot; PCR; Sequencing	PvuII; SnaBI/BglII	1	[29]
6130	15056	15056-6130	7644	24213	OL and OH	Duplicating part of minor and major arcs	COX1/CYTB	KSS						Diabetes mellitus	Southern blot; PCR	BamHI; DNAseI; SnaBI; PvuII	3	[24; 14; 15]
6131	15056	15056-6131	7645	24214	OL and OH	Duplicating part of minor and major arcs	COX1/CYTB	KSS							Southern blot; PCR	BamHI	1	[9]
6332	14920	14920-6332	7982	24551	OL and OH	Duplicating part of minor and major arcs	COX1/CYTB	KSS							Southern blot; PCR; Sequencing	PvuII; SnaBI/BglII	1	[29]
7354	15913	15913-7354	8011	24580	OL and OH	Duplicating part of minor and major arcs	COX1/TRNT		Mitochondrial myopathy						Southern blot; PCR	BamHI	1	[14]
7357	15916	15916-7357	8011	24580	OL and OH	Duplicating part of minor and major arcs	COX1/TRNT	KSS						Diabetes mellitus	Southern blot	BamHI; DNAseI; SnaBI; PvuII	1	[24]
7360	14920	14920-7360	9010	25579	OL and OH	Duplicating part of minor and major arcs	COX1/TRNT	KSS							Southern blot; PCR	BamHI	1	[9]
7835	14331	14331-7835	10074	26643	OL and OH	Duplicating part of minor and major arcs	COX2/ND6	KSS						Leigh disease	PCR; Southern blot	PvuII; PmeI; SmaI; SnaBI	2	[5; 28]
7882	15696	15696-7882	8756	25325	OL and OH	Duplicating part of minor and major arcs	COX2/CYTB	KSS							Southern blot; PCR; Sequencing	PvuII; BamHI; SnaBI/BgIII	3	[3; 22; 29]
7983	15504	15504-7983	9049	25618	OL and OH	Duplicating part of minor and major arcs	COX2/CYTB	KSS							Southern blot; PCR; Sequencing	SnaBII; BamHI; BglII	1	[27]
8424	11503	11503-8424	13491	30060	OL and OH	Duplicating part of minor and major arcs	ATP8/ND4	PEO							Southern blot; PCR; Sequencing	EagI; HindIII; SnaBI	1	[17]
8437	14068	14068-8437	10939	27508	OL and OH	Duplicating part of minor and major arcs	ATP8/ND5	PS							PCR; Southern blot	PvuI; SnaBI/BgIII	1	[26]
8476	14812	14812-8476	10234	26803	OL and OH	Duplicating part of minor and major arcs	ATP8/CYTB	KSS							PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[25]
8482	13460	13460-8482	11592	28161	OL and OH	Duplicating part of minor and major arcs	ATP8/ND5	KSS; PEO							PCR; Southern blot; Sequencing	PvuII; PmeI; BamHI; DNAseI; SnaBI; SnaBII; BglII	4	[5; 24; 25; 27]
8647	16086	16086-8647	9131	25700	OL and OH	Duplicating part of minor and major arcs	ATP6/Control Region	PEO						Leukoencephalopathy; ataxia; deafness	Southern blot; PCR; Sequencing	SnaBII; BamHI; BglII	1	[27]
9497	13735	13735-9497	12332	28901	OL and OH	Duplicating part of minor and major arcs	COX3/ND5	KSS							PCR; Southern blot; Sequencing	PvuII; SnaBI; BamHI	1	[25]
11036	15439	15439-11036	12167	28736	OL and OH	Duplicating part of minor and major arcs	ND4/CYTB	PS							Southern blot; PCR; Sequencing	SnaBII; BamHI; BglII	1	[27]
12122	15844	15844-12122	12848	29417	OL and OH	Duplicating part of minor and major arcs	ND4/CYTB	KSS							PCR; Southern blot; Sequencing	BamHI	1	[12]
12205	15355	15355-12205	13420	29989	OL and OH	Duplicating part of minor and major arcs	TRNH/CYTB	PS							Southern blot; PCR	PvuII; BamHI	1	[19]