Sephardic signature in haplogroup T mitochondrial DNA View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-04

AUTHORS

Felice L Bedford

ABSTRACT

A rare combination of mutations within mitochondrial DNA subhaplogroup T2e is identified as affiliated with Sephardic Jews, a group that has received relatively little attention. Four investigations were pursued: Search of the motif in 250 000 control region records across 8 databases, comparison of frequencies of T subhaplogroups (T1, T2b, T2c, T2e, T4, T(*)) across 11 diverse populations, creation of a phylogenic median-joining network from public T2e control region entries, and analysis of one Sephardic mitochondrial full genomic sequence with the motif. It was found that the rare motif belonged only to Sephardic descendents (Turkey, Bulgaria), to inhabitants of North American regions known for secret Spanish-Jewish colonization, or were consistent with Sephardic ancestry. The incidence of subhaplogroup T2e decreased from the Western Arabian Peninsula to Italy to Spain and into Western Europe. The ratio of sister subhaplogroups T2e to T2b was found to vary 40-fold across populations from a low in the British Isles to a high in Saudi Arabia with the ratio in Sephardim more similar to Saudi Arabia, Egypt, and Italy than to hosts Spain and Portugal. Coding region mutations of 2308G and 14499T may locate the Sephardic signature within T2e, but additional samples and reworking of current T2e phylogenetic branch structure is needed. The Sephardic Turkish community has a less pronounced founder effect than some Ashkenazi groups considered singly (eg, Polish), but other comparisons of interest await comparable averaging. Registries of signatures will benefit the study of populations with a large number of smaller-size founders. More... »

PAGES

441-448

References to SciGraph publications

  • 1997-04. A high observed substitution rate in the human mitochondrial DNA control region in NATURE GENETICS
  • 2000-12. Mitochondrial genome variation and the origin of modern humans in NATURE
  • 2011-01. Using mitochondrial DNA to test the hypothesis of a European post-glacial human recolonization from the Franco-Cantabrian refuge in HEREDITY
  • 2001-12. Major genomic mitochondrial lineages delineate early human expansions in BMC GENETICS
  • 2009-12. Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study in BMC MEDICAL GENETICS
  • 2006-09. Mitochondrial DNA sequence variation in Jewish populations in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2008-12. Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications in BMC GENOMICS
  • 2004-05. MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2008-05. Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2004-06. Predicting sampling saturation of mtDNA haplotypes: an application to an enlarged Portuguese database in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 2007-04. Ashkenazi Jewish mtDNA haplogroup distribution varies among distinct subpopulations: lessons of population substructure in a closed group in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2008-12. Mitochondrial DNA structure in the Arabian Peninsula in BMC EVOLUTIONARY BIOLOGY
  • 2003-06. Mitochondrial DNA heteroplasmy or artefacts—a matter of the amplification strategy? in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ejhg.2011.200

    DOI

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    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/22108605


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    52 schema:description A rare combination of mutations within mitochondrial DNA subhaplogroup T2e is identified as affiliated with Sephardic Jews, a group that has received relatively little attention. Four investigations were pursued: Search of the motif in 250 000 control region records across 8 databases, comparison of frequencies of T subhaplogroups (T1, T2b, T2c, T2e, T4, T(*)) across 11 diverse populations, creation of a phylogenic median-joining network from public T2e control region entries, and analysis of one Sephardic mitochondrial full genomic sequence with the motif. It was found that the rare motif belonged only to Sephardic descendents (Turkey, Bulgaria), to inhabitants of North American regions known for secret Spanish-Jewish colonization, or were consistent with Sephardic ancestry. The incidence of subhaplogroup T2e decreased from the Western Arabian Peninsula to Italy to Spain and into Western Europe. The ratio of sister subhaplogroups T2e to T2b was found to vary 40-fold across populations from a low in the British Isles to a high in Saudi Arabia with the ratio in Sephardim more similar to Saudi Arabia, Egypt, and Italy than to hosts Spain and Portugal. Coding region mutations of 2308G and 14499T may locate the Sephardic signature within T2e, but additional samples and reworking of current T2e phylogenetic branch structure is needed. The Sephardic Turkish community has a less pronounced founder effect than some Ashkenazi groups considered singly (eg, Polish), but other comparisons of interest await comparable averaging. Registries of signatures will benefit the study of populations with a large number of smaller-size founders.
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