Genetic variation at the mitochondrial DNA 9-bp repeat locus in the Sakha of Siberia.
Genetic variation at the mitochondrial DNA 9-bp repeat locus was assayed in 779 Sakha from Siberia. Fourteen deletion (1.8%), nine triplication (1.2%), and two 4-repeat alleles (0.26%) were identified. Several of these alleles were also detected as heteroplasmies. Among the four heteroplasmic indivi...
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ftuloxford:oai:ora.ox.ac.uk:uuid:0399a936-fd3f-4cc0-a707-3e259ae726bc 2024-09-30T14:42:04+00:00 Genetic variation at the mitochondrial DNA 9-bp repeat locus in the Sakha of Siberia. Tarskaia, L Gray, R Burkley, B Mulligan, C 2016-07-28 https://ora.ox.ac.uk/objects/uuid:0399a936-fd3f-4cc0-a707-3e259ae726bc eng eng https://ora.ox.ac.uk/objects/uuid:0399a936-fd3f-4cc0-a707-3e259ae726bc info:eu-repo/semantics/embargoedAccess Journal article 2016 ftuloxford 2024-09-06T07:47:26Z Genetic variation at the mitochondrial DNA 9-bp repeat locus was assayed in 779 Sakha from Siberia. Fourteen deletion (1.8%), nine triplication (1.2%), and two 4-repeat alleles (0.26%) were identified. Several of these alleles were also detected as heteroplasmies. Among the four heteroplasmic individuals identified (0.51%), three different combinations of repeat alleles were present: 1/2, 2/3, and 2/3/4 copies. Hypervariable region I (HVRI) sequencing revealed that three different sets of haplogroups were associated with the three most frequent 9-bp polymorphisms: (1) haplo-groups B, T, and W for deletions; (2) haplogroups C, D, and K for triplications; and (3) haplogroups C, D, and T for heteroplasmies. Both of the two 4-repeat alleles were associated with haplogroup D. We detected more types of 9-bp polymorphisms and more genetic variation within classes of polymorphism than previously reported for any single population. We also present the largest and most geographically diverse sampling of the Sakha population to date. No neighboring populations have been reported to carry a non-haplogroup B deletion, triplication, or heteroplasmy, suggesting that shared ancestry or admixture or both are unlikely explanations for the presence of these polymorphisms in the Sakha. The identification of high levels of variation may be a function of the large sample size and the in-depth analysis of all derived polymorphisms. Further study of the Sakha is warranted to determine whether the level of variation is unexpectedly high, especially in light of the presence of different heteroplasmies, which suggests multiple recent events. Article in Journal/Newspaper Sakha Siberia ORA - Oxford University Research Archive Sakha |
institution |
Open Polar |
collection |
ORA - Oxford University Research Archive |
op_collection_id |
ftuloxford |
language |
English |
description |
Genetic variation at the mitochondrial DNA 9-bp repeat locus was assayed in 779 Sakha from Siberia. Fourteen deletion (1.8%), nine triplication (1.2%), and two 4-repeat alleles (0.26%) were identified. Several of these alleles were also detected as heteroplasmies. Among the four heteroplasmic individuals identified (0.51%), three different combinations of repeat alleles were present: 1/2, 2/3, and 2/3/4 copies. Hypervariable region I (HVRI) sequencing revealed that three different sets of haplogroups were associated with the three most frequent 9-bp polymorphisms: (1) haplo-groups B, T, and W for deletions; (2) haplogroups C, D, and K for triplications; and (3) haplogroups C, D, and T for heteroplasmies. Both of the two 4-repeat alleles were associated with haplogroup D. We detected more types of 9-bp polymorphisms and more genetic variation within classes of polymorphism than previously reported for any single population. We also present the largest and most geographically diverse sampling of the Sakha population to date. No neighboring populations have been reported to carry a non-haplogroup B deletion, triplication, or heteroplasmy, suggesting that shared ancestry or admixture or both are unlikely explanations for the presence of these polymorphisms in the Sakha. The identification of high levels of variation may be a function of the large sample size and the in-depth analysis of all derived polymorphisms. Further study of the Sakha is warranted to determine whether the level of variation is unexpectedly high, especially in light of the presence of different heteroplasmies, which suggests multiple recent events. |
format |
Article in Journal/Newspaper |
author |
Tarskaia, L Gray, R Burkley, B Mulligan, C |
spellingShingle |
Tarskaia, L Gray, R Burkley, B Mulligan, C Genetic variation at the mitochondrial DNA 9-bp repeat locus in the Sakha of Siberia. |
author_facet |
Tarskaia, L Gray, R Burkley, B Mulligan, C |
author_sort |
Tarskaia, L |
title |
Genetic variation at the mitochondrial DNA 9-bp repeat locus in the Sakha of Siberia. |
title_short |
Genetic variation at the mitochondrial DNA 9-bp repeat locus in the Sakha of Siberia. |
title_full |
Genetic variation at the mitochondrial DNA 9-bp repeat locus in the Sakha of Siberia. |
title_fullStr |
Genetic variation at the mitochondrial DNA 9-bp repeat locus in the Sakha of Siberia. |
title_full_unstemmed |
Genetic variation at the mitochondrial DNA 9-bp repeat locus in the Sakha of Siberia. |
title_sort |
genetic variation at the mitochondrial dna 9-bp repeat locus in the sakha of siberia. |
publishDate |
2016 |
url |
https://ora.ox.ac.uk/objects/uuid:0399a936-fd3f-4cc0-a707-3e259ae726bc |
geographic |
Sakha |
geographic_facet |
Sakha |
genre |
Sakha Siberia |
genre_facet |
Sakha Siberia |
op_relation |
https://ora.ox.ac.uk/objects/uuid:0399a936-fd3f-4cc0-a707-3e259ae726bc |
op_rights |
info:eu-repo/semantics/embargoedAccess |
_version_ |
1811644330602921984 |