Literature DB >> 15954041

A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.

Anne-Marie Laberge1, Michele Jomphe, Louis Houde, Helene Vezina, Marc Tremblay, Bertrand Desjardins, Damian Labuda, Marc St-Hilaire, Carol Macmillan, Eric A Shoubridge, Bernard Brais.   

Abstract

The predominance of the T14484C mutation in French Canadians with Leber hereditary optic neuropathy is due to a founder effect. By use of genealogical reconstructions of maternal lineages, a woman married in Quebec City in 1669 is identified as the shared female ancestor for 11 of 13 affected individuals, who were previously not known to be related. These individuals carry identical mitochondrial haplogroups. The current geographic distribution of French Canadian cases overlaps with that of the founder's female descendants in 1800. This is the first example of genealogical reconstruction to identify the introduction of a mitochondrial mutation by a woman in a founder population.

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Year:  2005        PMID: 15954041      PMCID: PMC1224533          DOI: 10.1086/432491

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  10 in total

1.  Fragmentation of the Québec population genetic pool (Canada): evidence from the genetic contribution of founders per region in the 17th and 18th centuries.

Authors:  A Gagnon; E Heyer
Journal:  Am J Phys Anthropol       Date:  2001-01       Impact factor: 2.868

2.  Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect.

Authors:  C Macmillan; T A Johns; K Fu; E A Shoubridge
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.

Authors:  Neil Howell; Roelof-Jan Oostra; Piet A Bolhuis; Liesbeth Spruijt; Lorne A Clarke; David A Mackey; Gwen Preston; Corinna Herrnstadt
Journal:  Am J Hum Genet       Date:  2003-05-06       Impact factor: 11.025

4.  Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans.

Authors:  Ji Yeon Kim; Jeong-Min Hwang; Bong-Leen Chang; Sung Sup Park
Journal:  J Neurol       Date:  2003-03       Impact factor: 4.849

5.  The epidemiology of Leber hereditary optic neuropathy in the North East of England.

Authors:  P Yu-Wai-Man; P G Griffiths; D T Brown; N Howell; D M Turnbull; P F Chinnery
Journal:  Am J Hum Genet       Date:  2002-01-07       Impact factor: 11.025

6.  Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

Authors:  C Macmillan; T Kirkham; K Fu; V Allison; E Andermann; D Chitayat; D Fortier; M Gans; H Hare; N Quercia; D Zackon; E A Shoubridge
Journal:  Neurology       Date:  1998-02       Impact factor: 9.910

7.  [Diagnosis and prognosis of Leber's disease: incidence of spontaneous total recuperation].

Authors:  J R Brunette; R G Bernier
Journal:  Union Med Can       Date:  1970-04

8.  Leber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients.

Authors:  May-Yung Yen; An-Guor Wang; Wei-Ling Chang; Wen-Ming Hsu; Jorn-Hon Liu; Yau-Huei Wei
Journal:  Jpn J Ophthalmol       Date:  2002 Jan-Feb       Impact factor: 2.447

Review 9.  Leber hereditary optic neuropathy.

Authors:  P Yu-Wai-Man; D M Turnbull; P F Chinnery
Journal:  J Med Genet       Date:  2002-03       Impact factor: 6.318

10.  [Hereditary optic nerve atrophy. A clinical-genealogical status over Danish families with Leber disease].

Authors:  T Rosenberg; E Kann; S Nørby
Journal:  Ugeskr Laeger       Date:  1995-05-08
  10 in total
  3 in total

1.  De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology.

Authors:  Sergey I Zhadanov; Vasiliy V Atamanov; Nikolay I Zhadanov; Theodore G Schurr
Journal:  J Hum Genet       Date:  2006-01-18       Impact factor: 3.172

2.  Mitochondrial DNA Variation of Leber's Hereditary Optic Neuropathy in Western Siberia.

Authors:  Elena Starikovskaya; Sofia Shalaurova; Stanislav Dryomov; Azhar Nazhmidenova; Natalia Volodko; Igor Bychkov; Ilia Mazunin; Rem Sukernik
Journal:  Cells       Date:  2019-12-04       Impact factor: 6.600

3.  Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

Authors:  Valerio Carelli; Alessandro Achilli; Maria Lucia Valentino; Chiara Rengo; Ornella Semino; Maria Pala; Anna Olivieri; Marina Mattiazzi; Francesco Pallotti; Franco Carrara; Massimo Zeviani; Vincenzo Leuzzi; Carla Carducci; Giorgio Valle; Barbara Simionati; Luana Mendieta; Solange Salomao; Rubens Belfort; Alfredo A Sadun; Antonio Torroni
Journal:  Am J Hum Genet       Date:  2006-01-27       Impact factor: 11.025

  3 in total

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