title: The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.
abstract: Complete sequencing of 62 mitochondrial DNAs (mtDNAs) belonging (or very closely related) to haplogroup H revealed that this mtDNA haplogroup--by far the most common in Europe--is subdivided into numerous subhaplogroups, with at least 15 of them (H1-H15) identifiable by characteristic mutations. All the haplogroup H mtDNAs found in 5,743 subjects from 43 populations were then screened for diagnostic markers of subhaplogroups H1 and H3. This survey showed that both subhaplogroups display frequency peaks, centered in Iberia and surrounding areas, with distributions declining toward the northeast and southeast--a pattern extremely similar to that previously reported for mtDNA haplogroup V. Furthermore, the coalescence ages of H1 and H3 (~11,000 years) are close to that previously reported for V. These findings have major implications for the origin of Europeans, since they attest that the Franco-Cantabrian refuge area was indeed the source of late-glacial expansions of hunter-gatherers that repopulated much of Central and Northern Europe from ~15,000 years ago. This has also some implications for disease studies. For instance, the high occurrence of H1 and H3 in Iberia led us to re-evaluate the haplogroup distribution in 50 Spanish families affected by nonsyndromic sensorineural deafness due to the A1555G mutation. The survey revealed that the previously reported excess of H among these families is caused entirely by H3 and is due to a major, probably nonrecent, founder event.
authors.affiliation: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Achilli
authors.forename: Chiara
authors.initials: C
authors.lastname: Rengo
authors.forename: Chiara
authors.initials: C
authors.lastname: Magri
authors.forename: Vincenza
authors.initials: V
authors.lastname: Battaglia
authors.forename: Anna
authors.initials: A
authors.lastname: Olivieri
authors.forename: Rosaria
authors.initials: R
authors.lastname: Scozzari
authors.forename: Fulvio
authors.initials: F
authors.lastname: Cruciani
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
authors.forename: Egill
authors.initials: E
authors.lastname: Briem
authors.forename: Valerio
authors.initials: V
authors.lastname: Carelli
authors.forename: Pedro
authors.initials: P
authors.lastname: Moral
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Dugoujon
authors.forename: Urmas
authors.initials: U
authors.lastname: Roostalu
authors.forename: Eva-Liis
authors.initials: EL
authors.lastname: Loogväli
authors.forename: Toomas
authors.initials: T
authors.lastname: Kivisild
authors.forename: Hans-Jürgen
authors.initials: HJ
authors.lastname: Bandelt
authors.forename: Martin
authors.initials: M
authors.lastname: Richards
authors.forename: Richard
authors.initials: R
authors.lastname: Villems
authors.forename: A Silvana
authors.initials: AS
authors.lastname: Santachiara-Benerecetti
authors.forename: Ornella
authors.initials: O
authors.lastname: Semino
authors.forename: Antonio
authors.initials: A
authors.lastname: Torroni
mesh_terms: D001483:Base Sequence; D002980:Climate; D004272:DNA, Mitochondrial / Q000145:classification / Q000235:genetics*; D019143:Evolution, Molecular; D018703:Founder Effect; D005602:France; D005788:Gene Pool; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010802:Phylogeny; D017422:Sequence Analysis, DNA; D013030:Spain; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers