Table 4

Frequency of insertions/deletions in poly-C tracts (minimum of seven cytosine residues that may be or not interrupted by another base) of human mtDNA from a database of 1457 sequences.

Motif

Position

Region

% in/del in database individuals

% heteroplasmic families in empirical studies


CCCCCCCTCCCCC or CCCCCCCTCCCCCC

303–315

D-loop (Hypervariable region II, conserved sequence block 2)

63% (566/897)

54.16% (26/48)b

CCCCCGCCC

494–502

D-loop

0% (0/1457)

-

CCACACCCCCAC

797–808

12S ribosomal RNA

0% (0/1457)

-

CACCCCCTCCCC

954–965

12S ribosomal RNA

2.7% (40/1457)

-

CCCCCCTCCCC

3566–3576

NADH Dehydrogenase subunit 1

0% (0/1457)

0% (0/46)

CCCAACCCCC

3580–3589

NADH Dehydrogenase subunit 1

0% (0/1457)

0% (0/46)

CCCCCCACCC

7397–7406

Cytochrome c oxidase subunit I

0% (0/1457)

-

CACCCCCTCTACCCCCTCT

8270–8288

non-coding region

0.3% (4/1457)a

-

CCCCTACCCCCC

9526–9537

Cytochrome c oxidase subunit III

0% (0/1457)

-

CCCCCGCCC

10192–10200

NADH dehydrogenase subunit 3

0% (0/1457)

-

CCCCCCTCC

10947–10955

NADH dehydrogenase subunit 4

0% (0/1457)

-

CCCCCGCATCCCCCTTCC

13754–13771

NADH dehydrogenase subunit 5

0% (0/1457)

-

CCTCCCCC

14528–14535

NADH dehydrogenase subunit 6

0% (0/1457)

-

CCCCCTCCCC

16184–16193

D-loop (Hypervariable region I)

24.7% (222/897)

22.92% (11/48)b


a. Excluding the polymorphic 9 pb deletion, typical of haplogroup B; Data from Santos et al. [37]

Santos et al. BMC Evolutionary Biology 2008 8:167   doi:10.1186/1471-2148-8-167

Open Data