Mitochondrial DNA heteroplasmy in ovine fetuses and sheep cloned by somatic cell nuclear transfer

Table 2 Polymorphisms in the coding region of the mitochondrial genomes of donor A and its clones

Sample	Gene	Base or amino acid change	Localisation of polymorphism	% in population (sequences tested)	Variation in human mtDNA⁵
donor A	MT-RNR2	T1114C	domain 1 [69]	10 (n = 10)	n.a.
donor A	MT-TF	C41T	anticodon stem [70]	0.8 (n = 132)	n.a.
donor A	MT-CYB	Ile238Thr³	transmembrane domain 6¹	18 (n = 28)	Ser/Pro/Phe
CA1-3²	MT-ND6	Val154Ile³	transmembrane domain 5¹	≤ 13 (n = 8)	Val
CA5	MT-CO1	Met466Thr³	transmembrane domain 12¹	< 5 (n = 21)	Met/Val
CA5	MT-CO3	Asn125Asp	longest extra-membranous loop^1,4	< 5 (n = 21)	Asn
CA5	MT-ND4L	Met47Thr³	transmembrane domain 2¹	< 5 (n = 21)	Met/Thr/Ile
CA5	MT-RNR1	A810T	domain 3 [71]	2.6 (n = 38)	n.a.
CA6	MT-TG	T134C	DHU loop [72]	9.1 (n = 11)	n.a.

n.a., not analysed
¹According to Swiss Protein families database of alignments and hidden Markov models (Pfam)
²Recipient oocytes used to clone CA1, CA2 and CA3 are of the same mtDNA genotype
³Uncharged amino acids
⁴hydrophilic loop exposed on the intermembrane space and connecting helices III and IV [41]
⁵according to Human Mitochondrial Genome Database [40]

ISSN: 1471-213X