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 hetero-plasmic indiv...
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ftbioone:10.1353/hub.2006.0038 2024-06-02T08:13:53+00:00 Genetic Variation at the Mitochondrial DNA 9-bp Repeat Locus in the Sakha of Siberia L. Tarskaia R. R. Gray B. Burkley C. J. Mulligan L. Tarskaia R. R. Gray B. Burkley C. J. Mulligan world 2006-04-01 text/HTML https://doi.org/10.1353/hub.2006.0038 en eng Wayne State University Press doi:10.1353/hub.2006.0038 All rights reserved. https://doi.org/10.1353/hub.2006.0038 Text 2006 ftbioone https://doi.org/10.1353/hub.2006.0038 2024-05-07T01:03:53Z 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 hetero-plasmic 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. Text Sakha Siberia BioOne Online Journals Sakha Human Biology 78 2 179 198 |
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Open Polar |
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BioOne Online Journals |
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ftbioone |
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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 hetero-plasmic 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. |
author2 |
L. Tarskaia R. R. Gray B. Burkley C. J. Mulligan |
format |
Text |
author |
L. Tarskaia R. R. Gray B. Burkley C. J. Mulligan |
spellingShingle |
L. Tarskaia R. R. Gray B. Burkley C. J. Mulligan Genetic Variation at the Mitochondrial DNA 9-bp Repeat Locus in the Sakha of Siberia |
author_facet |
L. Tarskaia R. R. Gray B. Burkley C. J. Mulligan |
author_sort |
L. Tarskaia |
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 |
publisher |
Wayne State University Press |
publishDate |
2006 |
url |
https://doi.org/10.1353/hub.2006.0038 |
op_coverage |
world |
geographic |
Sakha |
geographic_facet |
Sakha |
genre |
Sakha Siberia |
genre_facet |
Sakha Siberia |
op_source |
https://doi.org/10.1353/hub.2006.0038 |
op_relation |
doi:10.1353/hub.2006.0038 |
op_rights |
All rights reserved. |
op_doi |
https://doi.org/10.1353/hub.2006.0038 |
container_title |
Human Biology |
container_volume |
78 |
container_issue |
2 |
container_start_page |
179 |
op_container_end_page |
198 |
_version_ |
1800737527780343808 |