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European journal of medical genetics, 2024-08, Vol.70, p.104957, Article 104957
2024

Details

Autor(en) / Beteiligte
Titel
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III
Ist Teil von
  • European journal of medical genetics, 2024-08, Vol.70, p.104957, Article 104957
Ort / Verlag
Elsevier Masson SAS
Erscheinungsjahr
2024
Link zum Volltext
Quelle
Alma/SFX Local Collection
Beschreibungen/Notizen
  • This paper reports the discovery of a m.C1494T pedigree in the east of England made during a search for matrilineal relations of King Richard III. The mitochondrial DNA variant m.C1494T has been associated with aminoglycoside-induced deafness. This variant is very uncommon. although pedigrees with this variant have previously been found in China and Spain. The members of the newly identified pedigree all belong to the mitochondrial haplogroup J1c2c3, which is also the haplogroup of King Richard III. The presence of a few people in the USA from the same haplogroup has previously been noted, and it is now known that one of the people can show his descent from a couple who lived in Nottinghamshire, England, in the late 1700's. The mitochondrial DNA sequence of this man, at present living in the USA, and of his 4th cousin, twice removed, living in Lincoln, England, has shown they belong to haplogroup J1c2c3 and both have the variant m.C1494T; thereby, allowing the production of a multi-generational pedigree originating in the east of England. Fortunately, deafness has not been found in any living member of this large pedigree. It was also noted that the link to the family of King Richard III has not been firmly defined; however the circumstantial evidence is strong as many of his family members lived in this part of England. •The mitochondrial DNA mutation m.C1494T is very uncommon•New 10-generational m.C1494T pedigree discovered•m.C1494T is associated with aminoglycoside-induced deafness•Mitochondrial haplogroup of King Richard III is J1c2c3•New pedigree also in haplogroup J1c2c3•The pedigree probably has links to King Richard III
Sprache
Englisch
Identifikatoren
ISSN: 1769-7212, 1878-0849
eISSN: 1878-0849
DOI: 10.1016/j.ejmg.2024.104957
Titel-ID: cdi_proquest_miscellaneous_3070825249

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