YFull | Articles

Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications

Feder,J., Blech,I., Ovadia,O., Amar,S., Wainstein,J., Raz,I., Dadon,S., Arking,D.E., Glaser,B. and Mishmar,D.

BMC Genomics 9, 198 (2008) Publication Status: Online-Only

Expanding Southwest Pacific mitochondrial haplogroups P and Q

Friedlaender,J., Schurr,T., Gentz,F., Koki,G., Friedlaender,F., Horvat,G., Babb,P., Cerchio,S., Kaestle,F., Schanfield,M., Deka,R., Yanagihara,R. and Merriwether,D.A.

Mol. Biol. Evol. 22 (6), 1506-1517 (2005) Erratum:[Mol Biol Evol. 2005 Nov;22(11):2313]

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny

Zaragoza,M.V., Brandon,M.C., Diegoli,M., Arbustini,E. and Wallace,D.C.

Eur. J. Hum. Genet. (2010) In press Publication Status: Available-Online prior to print

Genetic affinities between the Yami tribe people of Orchid Island and the Philippine Islanders of the Batanes archipelago

Loo,J.H., Trejaut,J.A., Yen,J.C., Chen,Z.S., Lee,C.L. and Lin,M.

BMC Genet. 12, 21 (2011) Publication Status: Online-Only

The maternal aborigine colonization of La Palma (Canary Islands)

Fregel,R., Pestano,J., Arnay,M., Cabrera,V.M., Larruga,J.M. and Gonzalez,A.M.

Eur. J. Hum. Genet. 17 (10), 1314-1324 (2009)

The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country

Gonzalez,A.M., Garcia,O., Larruga,J.M. and Cabrera,V.M.

BMC Genomics 7, 124 (2006) Publication Status: Online-Only

In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India

Thangaraj,K., Chaubey,G., Singh,V.K., Vanniarajan,A., Thanseem,I., Reddy,A.G. and Singh,L.

BMC Genomics 7, 151 (2006) Publication Status: Online-Only

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

Soini,H.K., Vaisanen,A., Karppa,M., Hinttala,R., Kytovuori,L., Moilanen,J.S., Uusimaa,J. and Majamaa,K.

BMC Med. Genet. 18 (1), 14 (2017) Publication Status: Online-Only

Mitochondrial lineage M1 traces an early human backflow to Africa

Gonzalez,A.M., Larruga,J.M., Abu-Amero,K.K., Shi,Y., Pestano,J. and Cabrera,V.M.

BMC Genomics 8 (1), 223 (2007) Publication Status: Available-Online prior to print

Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations

Lopez-Gallardo,E., Emperador,S., Hernandez-Ainsa,C., Montoya,J., Bayona-Bafaluy,M.P. and Ruiz-Pesini,E.

Food Chem. Toxicol. 120, 89-97 (2018)

Tracing the austronesian footprint in mainland southeast Asia: a perspective from mitochondrial DNA

Peng,M.S., Quang,H.H., Dang,K.P., Trieu,A.V., Wang,H.W., Yao,Y.G., Kong,Q.P. and Zhang,Y.P.

Mol. Biol. Evol. 27 (10), 2417-2430 (2010)

A genetic contribution from the Far East into Ashkenazi Jews via the ancient Silk Road

Tian,J.Y., Wang,H.W., Li,Y.C., Zhang,W., Yao,Y.G., van Straten,J., Richards,M.B. and Kong,Q.P.

Sci Rep 5, 8377 (2015) Publication Status: Online-Only

Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation

Maasz,A., Komlosi,K., Hadzsiev,K., Szabo,Z., Willems,P.J., Gerlinger,I., Kosztolanyi,G., Mehes,K. and Melegh,B.

Curr. Med. Chem. 15 (13), 1257-1262 (2008)

Neolithic phylogenetic continuity inferred from complete mitochondrial DNA sequences in a tribal population of Southern India

Sylvester,C., Krishna,M.S., Rao,J.S. and Chandrasekar,A.

Genetica 146 (4-5), 383-389 (2018) Erratum:[Genetica. 2018 Sep 10;:. PMID: 30203139]

Is Mitochondrial tRNA Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G>A?

Zhang,A.M., Bandelt,H.J., Jia,X., Zhang,W., Li,S., Yu,D., Wang,D., Zhuang,X.Y., Zhang,Q. and Yao,Y.G.

PLoS ONE 6 (10), E26511 (2011) Publication Status: Online-Only

Mitochondrial haplogroup N1a phylogeography, with implication to the origin of European farmers

Palanichamy,M.G., Zhang,C.L., Mitra,B., Malyarchuk,B., Derenko,M., Chaudhuri,T.K. and Zhang,Y.P.

BMC Evol. Biol. 10 (1), 304 (2010) Publication Status: Online-Only

The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity

Ghelli,A., Porcelli,A.M., Zanna,C., Vidoni,S., Mattioli,S., Barbieri,A., Iommarini,L., Pala,M., Achilli,A., Torroni,A., Rugolo,M. and Carelli,V.

PLoS ONE 4 (11), E7922 (2009) Publication Status: Online-Only

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

Verny,C., Guegen,N., Desquiret,V., Chevrollier,A., Prundean,A., Dubas,F., Cassereau,J., Ferre,M., Amati-Bonneau,P., Bonneau,D., Reynier,P. and Procaccio,V.

Mitochondrion 11 (1), 70-75 (2011)

Phylogeography and ethnogenesis of aboriginal Southeast Asians

Hill,C., Soares,P., Mormina,M., Macaulay,V., Meehan,W., Blackburn,J., Clarke,D., Raja,J.M., Ismail,P., Bulbeck,D., Oppenheimer,S. and Richards,M.

Mol. Biol. Evol. 23 (12), 2480-2491 (2006)

Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

Zhang,A.M., Jia,X., Guo,X., Zhang,Q. and Yao,Y.G.

J Transl Med 10, 43 (2012) Publication Status: Online-Only

Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy

Yu,D., Jia,X., Zhang,A.M., Guo,X., Zhang,Y.P., Zhang,Q. and Yao,Y.G.

Neurogenetics 11 (3), 349-356 (2010)

The makers of the Protoaurignacian and implications for Neandertal extinction

Benazzi,S., Slon,V., Talamo,S., Negrino,F., Peresani,M., Bailey,S.E., Sawyer,S., Panetta,D., Vicino,G., Starnini,E., Mannino,M.A., Salvadori,P.A., Meyer,M., Paabo,S. and Hublin,J.-J.

Science (2015) In press Publication Status: Available-Online prior to print

Tamil merchant in ancient mesopotamia

Palanichamy,M.G., Mitra,B., Debnath,M., Agrawal,S., Chaudhuri,T.K. and Zhang,Y.P.

PLoS ONE 9 (10), E109331 (2014) Publication Status: Online-Only

The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells

Bi,R., Zhang,A.M., Zhang,W., Kong,Q.P., Wu,B.L., Yang,X.H., Wang,D., Zou,Y., Zhang,Y.P. and Yao,Y.G.

Hum. Mutat. 31 (5), 538-543 (2010)

Novel mitochondrial DNA length variants and genetic instability in a family with diabetes and deafness

Janssen,G.M., Neu,A., 't Hart,L.M., van de Sande,C.M. and Antonie Maassen,J.

Exp. Clin. Endocrinol. Diabetes 114 (4), 168-174 (2006)

First ancient mitochondrial human genome from a prepastoralist southern african

Morris,A.G., Heinze,A., Chan,E.K., Smith,A.B. and Hayes,V.M.

Genome Biol Evol 6 (10), 2647-2653 (2014) Publication Status: Online-Only

Analysis of mitochondrial genome revealed a rare 50 bp deletion and substitutions in a family with hypertension

Elango,S., Govindaraj,P., Vishwanadha,V.P., Reddy,A.G., Tamang,R., Muthusami,U., Kunnoth,S., Koyilil,V.K., Lakshman,M., Shanmugasundharam,N., Singh,L. and Thangaraj,K.

Mitochondrion 11 (6), 878-885 (2011)

Mitochondrial DNA structure in the Arabian Peninsula

Abu-Amero,K.K., Larruga,J.M., Cabrera,V.M. and Gonzalez,A.M.

BMC Evol. Biol. 8, 45 (2008) Publication Status: Online-Only

Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel

Pereira,L., Cerny,V., Cerezo,M., Silva,N.M., Hajek,M., Vasikova,A., Kujanova,M., Brdicka,R. and Salas,A.

Eur. J. Hum. Genet. 18 (8), 915-923 (2010)

[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2]

Delgado-Sanchez,R., Zarate-Moysen,A., Monsalvo-Reyes,A., Herrero,M.D., Ruiz-Pesini,E., Lopez-Perez,M., Montoya,J. and Montiel-Sosa,J.F.

Rev Neurol 44 (1), 18-22 (2007)

Genetic Ancestry of Rapanui before and after European Contact

Fehren-Schmitz,L., Jarman,C.L., Harkins,K.M., Kayser,M., Popp,B.N. and Skoglund,P.

Curr. Biol. (2017) In press Publication Status: Available-Online prior to print

Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis

Zsurka,G., Hampel,K.G., Kudina,T., Kornblum,C., Kraytsberg,Y., Elger,C.E., Khrapko,K. and Kunz,W.S.

Am. J. Hum. Genet. 80 (2), 298-305 (2007)

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene

Zsurka,G., Hampel,K.G., Nelson,I., Jardel,C., Mirandola,S.R., Sassen,R., Kornblum,C., Marcorelles,P., Lavoue,S., Lombes,A. and Kunz,W.S.

Neurology 74 (6), 507-512 (2010)

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

Carossa,V., Ghelli,A., Tropeano,C.V., Valentino,M.L., Iommarini,L., Maresca,A., Caporali,L., La Morgia,C., Liguori,R., Barboni,P., Carbonelli,M., Rizzo,G., Tonon,C., Lodi,R., Martinuzzi,A., De Nardo,V., Rugolo,M., Ferretti,L., Gandini,F., Pala,M., Achilli,A., Olivieri,A., Torroni,A. and Carelli,V.

Hum. Mutat. 35 (8), 954-958 (2014)

The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family

Yang,J., Zhu,Y., Tong,Y., Zhang,Z., Chen,L., Chen,S., Cao,Z., Liu,C., Xu,J. and Ma,X.

Mitochondrion 9 (4), 273-278 (2009)

Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy

Zhang,A.M., Jia,X., Yao,Y.G. and Zhang,Q.

Biochem. Biophys. Res. Commun. 376 (1), 221-224 (2008)

Mitochondrial DNA haplogroup B5 confers genetic susceptibility to Alzheimer's disease in Han Chinese

Bi,R., Zhang,W., Yu,D., Li,X., Wang,H.Z., Hu,Q.X., Zhang,C., Lu,W., Ni,J., Fang,Y., Li,T. and Yao,Y.G.

Neurobiol. Aging (2014) In press Publication Status: Available-Online prior to print

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity

Guillet,V., Chevrollier,A., Cassereau,J., Letournel,F., Gueguen,N., Richard,L., Desquiret,V., Verny,C., Procaccio,V., Amati-Bonneau,P., Reynier,P. and Bonneau,D.

Mitochondrion 10 (2), 115-124 (2010)

Origins of the Moken Sea Gypsies inferred from mitochondrial hypervariable region and whole genome sequences

Dancause,K.N., Chan,C.W., Arunotai,N.H. and Lum,J.K.

J. Hum. Genet. 54 (2), 86-93 (2009)

Brief communication: Mitochondrial haplotype C4c confirmed as a founding genome in the Americas

Malhi,R.S., Cybulski,J.S., Tito,R.Y., Johnson,J., Harry,H. and Dan,C.

Am. J. Phys. Anthropol. 141 (3), 494-497 (2010)

New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0

Alvarez-Iglesias,V., Mosquera-Miguel,A., Cerezo,M., Quintans,B., Zarrabeitia,M.T., Cusco,I., Lareu,M.V., Garcia,O., Perez-Jurado,L., Carracedo,A. and Salas,A.

PLoS ONE 4 (4), E5112 (2009)

A new deep branch of eurasian mtDNA macrohaplogroup M reveals additional complexity regarding the settlement of Madagascar

Ricaut,F.X., Razafindrazaka,H., Cox,M.P., Dugoujon,J.M., Guitard,E., Sambo,C., Mormina,M., Mirazon-Lahr,M., Ludes,B. and Crubezy,E.

BMC Genomics 10, 605 (2009) Publication Status: Online-Only

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy

Perli,E., Giordano,C., Tuppen,H.A., Montopoli,M., Montanari,A., Orlandi,M., Pisano,A., Catanzaro,D., Caparrotta,L., Musumeci,B., Autore,C., Morea,V., Di Micco,P., Campese,A.F., Leopizzi,M., Gallo,P., Francisci,S., Frontali,L., Taylor,R.W. and d'Amati,G.

Hum. Mol. Genet. (2011) In press Publication Status: Available-Online prior to print

Complete sequence of human mitochondrial DNA obtained by combining multiple displacement amplification and next-generation sequencing on a single oocyte

Ancora,M., Orsini,M., Colosimo,A., Marcacci,M., Russo,V., De Santo,M., D'Aurora,M., Stuppia,L., Barboni,B., Camma,C. and Gatta,V.

Mitochondrial DNA A DNA MappSeq Anal, 1-2 (2016) In press Publication Status: Available-Online prior to print

Mitogenomes of polar bodies and corresponding oocytes

Gianoarli,L., Luiselli,D., Crivello,A.M., Lang,M., Ferraretti,A.P., De Fanti,S., Magli,M.C. and Romeo,G.

PLoS ONE 9 (7), E102182 (2014) Publication Status: Online-Only

Mitochondrial DNA haplogroup H structure in North Africa

Ennafaa,H., Cabrera,V.M., Abu-Amero,K.K., Gonzalez,A.M., Amor,M.B., Bouhaha,R., Dzimiri,N., Elgaaied,A.B. and Larruga,J.M.

BMC Genet. 10, 8 (2009) Publication Status: Online-Only

Presence of mutation m.14484T>C in a Chinese family with maternally inherited essential hypertension but no expression of LHON

Guo,H., Zhuang,X.Y., Zhang,A.M., Zhang,W., Yuan,Y., Guo,L., Yu,D., Liu,J., Yang,D.K. and Yao,Y.G.

Biochim. Biophys. Acta 1822 (10), 1535-1543 (2012)

Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNA causing maternally inherited essential hypertension

Guo,L., Yuan,Y. and Bi,R.

Biochem. Biophys. Res. Commun. (2016) In press Publication Status: Available-Online prior to print

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

La Morgia,C., Caporali,L., Gandini,F., Olivieri,A., Toni,F., Nassetti,S., Brunetto,D., Stipa,C., Scaduto,C., Parmeggiani,A., Tonon,C., Lodi,R., Torroni,A. and Carelli,V.

BMC Neurol 14 (1), 116 (2014) Publication Status: Available-Online prior to print

Fine Dissection of Human Mitochondrial DNA Haplogroup HV Lineages Reveals Paleolithic Signatures from European Glacial Refugia

De Fanti,S., Barbieri,C., Sarno,S., Sevini,F., Vianello,D., Tamm,E., Metspalu,E., van Oven,M., Hubner,A., Sazzini,M., Franceschi,C., Pettener,D. and Luiselli,D.

PLoS ONE 10 (12), E0144391 (2015) Publication Status: Online-Only

Pleistocene North African genomes link Near Eastern and sub-Saharan African human populations

van de Loosdrecht,M., Bouzouggar,A., Humphrey,L., Posth,C., Barton,N., Aximu-Petri,A., Nickel,B., Nagel,S., Talbi,E.H., El Hajraoui,M.A., Amzazi,S., Hublin,J.J., Paabo,S., Schiffels,S., Meyer,M., Haak,W., Jeong,C. and Krause,J.

Science (2018) In press Publication Status: Available-Online prior to print

Arrival of paleo-indians to the southern cone of South america: new clues from mitogenomes

de Saint Pierre,M., Gandini,F., Perego,U.A., Bodner,M., Gomez-Carballa,A., Corach,D., Angerhofer,N., Woodward,S.R., Semino,O., Salas,A., Parson,W., Moraga,M., Achilli,A., Torroni,A. and Olivieri,A.

PLoS ONE 7 (12), E51311 (2012) Publication Status: Online-Only

The Etruscan timeline: a recent Anatolian connection

Brisighelli,F., Capelli,C., Alvarez-Iglesias,V., Onofri,V., Paoli,G., Tofanelli,S., Carracedo,A., Pascali,V.L. and Salas,A.

Eur. J. Hum. Genet. 17 (5), 693-696 (2009)

Ancient inland human dispersals from Myanmar into interior East Asia since the Late Pleistocene

Li,Y.C., Wang,H.W., Tian,J.Y., Liu,L.N., Yang,L.Q., Zhu,C.L., Wu,S.F., Kong,Q.P. and Zhang,Y.P.

Sci Rep 5, 9473 (2015) Publication Status: Online-Only

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

van der Walt,E.M., Smuts,I., Taylor,R.W., Elson,J.L., Turnbull,D.M., Louw,R. and van der Westhuizen,F.H.

Eur. J. Hum. Genet. 20 (6), 650-656 (2012)

mtDNA Heteroplasmy in Monozygotic Twins Discordant for Schizophrenia

Li,H., Bi,R., Fan,Y., Wu,Y., Tang,Y., Li,Z., He,Y., Zhou,J., Tang,J., Chen,X. and Yao,Y.G.

Mol. Neurobiol. 54 (6), 4343-4352 (2017)

A Re-Appraisal of the Early Andean Human Remains from Lauricocha in Peru

Fehren-Schmitz,L., Llamas,B., Lindauer,S., Tomasto-Cagigao,E., Kuzminsky,S., Rohland,N., Santos,F.R., Kaulicke,P., Valverde,G., Richards,S.M., Nordenfelt,S., Seidenberg,V., Mallick,S., Cooper,A., Reich,D. and Haak,W.

PLoS ONE 10 (6), E0127141 (2015) Publication Status: Online-Only

Analysis to Estimate Genetic Variations in the Idarubicin-Resistant Derivative MOLT-3

Komiyama,T., Ogura,A., Hirokawa,T., Zhijing,M., Kamiguchi,H., Asai,S., Miyachi,H. and Kobayashi,H.

Int J Mol Sci 18 (1), E12 (2016) DOI:10.3390/ijms18010012 Publication Status: Online-Only

Investigating Holocene human population history in North Asia using ancient mitogenomes

Kilinc,G.M., Kashuba,N., Yaka,R., Sumer,A.P., Yuncu,E., Shergin,D., Ivanov,G.L., Kichigin,D., Pestereva,K., Volkov,D., Mandryka,P., Kharinskii,A., Tishkin,A., Ineshin,E., Kovychev,E., Stepanov,A., Alekseev,A., Fedoseeva,S.A., Somel,M., Jakobsson,M., Krzewinska,M., Stora,J. and Gotherstrom,A.

Sci Rep 8 (1), 8969 (2018) Publication Status: Online-Only

Mitogenomic analyses of caniform relationships

Arnason,U., Gullberg,A., Janke,A. and Kullberg,M.

Mol. Phylogenet. Evol. 45 (3), 863-874 (2007)

Early Neolithic genomes from the eastern Fertile Crescent

Broushaki,F., Thomas,M.G., Link,V., Lopez,S., van Dorp,L., Kirsanow,K., Hofmanova,Z., Diekmann,Y., Cassidy,L.M., Diez-Del-Molino,D., Kousathanas,A., Sell,C., Robson,H.K., Martiniano,R., Blocher,J., Scheu,A., Kreutzer,S., Bollongino,R., Bobo,D., Davudi,H., Munoz,O., Currat,M., Abdi,K., Biglari,F., Craig,O.E., Bradley,D.G., Shennan,S., Veeramah,K.R., Mashkour,M., Wegmann,D., Hellenthal,G. and Burger,J.

Science, eaaf7943 (2016) In press Publication Status: Available-Online prior to print

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

Aure,K., Dubourg,O., Jardel,C., Clarysse,L., Sternberg,D., Fournier,E., Laforet,P., Streichenberger,N., Petiot,P., Gervais-Bernard,H., Vial,C., Bedat-Millet,A.L., Drouin-Garraud,V., Bouillaud,F., Vandier,C., Fontaine,B. and Lombes,A.

Neurology 81 (21), 1810-1818 (2013)

Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy

Khan,N.A., Govindaraj,P., Jyothi,V., Meena,A.K. and Thangaraj,K.

Mol. Vis. 19, 1282-1289 (2013) Publication Status: Online-Only

Complete mitochondrial sequences from Mesolithic Sardinia

Modi,A., Tassi,F., Susca,R.R., Vai,S., Rizzi,E., Bellis,G., Luglie,C., Gonzalez Fortes,G., Lari,M., Barbujani,G., Caramelli,D. and Ghirotto,S.

Sci Rep 7, 42869 (2017) Publication Status: Online-Only

Genetic Drift Can Compromise Mitochondrial Replacement by Nuclear Transfer in Human Oocytes

Yamada,M., Emmanuele,V., Sanchez-Quintero,M.J., Sun,B., Lallos,G., Paull,D., Zimmer,M., Pagett,S., Prosser,R.W., Sauer,M.V., Hirano,M. and Egli,D.

Cell Stem Cell (2016) In press Publication Status: Available-Online prior to print

Pseudomitochondrial genome haunts disease studies

Yao,Y.G., Kong,Q.P., Salas,A. and Bandelt,H.J.

J. Med. Genet. 45 (12), 769-772 (2008)

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus

La Morgia,C., Achilli,A., Iommarini,L., Barboni,P., Pala,M., Olivieri,A., Zanna,C., Vidoni,S., Tonon,C., Lodi,R., Vetrugno,R., Mostacci,B., Liguori,R., Carroccia,R., Montagna,P., Rugolo,M., Torroni,A. and Carelli,V.

Neurology 70 (10), 762-770 (2008)

Single haplotype assembly of the human genome from a hydatidiform mole

Steinberg,K.M., Schneider,V.A., Graves-Lindsay,T.A., Fulton,R.S., Agarwala,R., Huddleston,J., Shiryev,S.A., Morgulis,A., Surti,U., Warren,W.C., Church,D.M., Eichler,E.E. and Wilson,R.K.

Genome Res. 24 (12), 2066-2076 (2014)

Seven unidentified reading frames of human mitochondrial DNA encode subunits of the respiratory chain NADH dehydrogenase

Attardi,G., Chomyn,A., Doolittle,R.F., Mariottini,P. and Ragan,C.I.

Cold Spring Harb. Symp. Quant. Biol. 51 (PT 1), 103-114 (1986)

Dinucleotide repeat in the human mitochondrial D-loop

Bodenteich,A., Mitchell,L.G., Polymeropoulos,M.H. and Merril,C.R.

Hum. Mol. Genet. 1 (2), 140 (1992)

Differentiation of HT-29 human colonic adenocarcinoma cells correlates with increased expression of mitochondrial RNA: effects of trehalose on cell growth and maturation

Lu,X., Walker,T., MacManus,J.P. and Seligy,V.L.

Cancer Res. 52 (13), 3718-3725 (1992)

Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in chinese patients

Zhang,A.M., Jia,X., Bi,R., Salas,A., Li,S., Xiao,X., Wang,P., Guo,X., Kong,Q.P., Zhang,Q. and Yao,Y.G.

PLoS ONE 6 (11), E27750 (2011) Publication Status: Online-Only

Migration of Chadic speaking pastoralists within Africa based on population structure of Chad Basin and phylogeography of mitochondrial L3f haplogroup

Cerny,V., Fernandes,V., Costa,M.D., Hajek,M., Mulligan,C.J. and Pereira,L.

BMC Evol. Biol. 9, 63 (2009) Publication Status: Online-Only

Comparison between the complete mitochondrial DNA sequences of Homo and the common chimpanzee based on nonchimeric sequences

Arnason,U., Xu,X. and Gullberg,A.

J. Mol. Evol. 42 (2), 145-152 (1996)

Radiation of extant marsupials after the K/T boundary: evidence from complete mitochondrial genomes

Nilsson,M.A., Gullberg,A., Spotorno,A.E., Arnason,U. and Janke,A.

J. Mol. Evol. 57 (SUPPL 1), S3-S12 (2003)

Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA

Horai,S. and Hayasaka,K.

Am. J. Hum. Genet. 46 (4), 828-842 (1990)

Frequency of a 9-bp deletion in the mitochondrial DNA among Asian populations

Harihara,S., Hirai,M., Suutou,Y., Shimizu,K. and Omoto,K.

Hum. Biol. 64 (2), 161-166 (1992)

Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy

Obayashi,T., Hattori,K., Sugiyama,S., Tanaka,M., Itoyama,S., Deguchi,H., Kawamura,K., Koga,Y., Toshima,H., Takeda,N., Nagano,M., Ito,T. and Ozawa,T.

Am. Heart J. 124 (5), 1263-1269 (1992)

Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO)

Hattori,Y., Goto,Y., Sakuta,R., Nonaka,I., Mizuno,Y. and Horai,S.

J. Neurol. Sci. 125 (1), 50-55 (1994)

Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus

Thomas,A.W., Edwards,A., Sherratt,E.J., Majid,A., Gagg,J. and Alcolado,J.C.

J. Med. Genet. 33 (3), 253-255 (1996)

Mitochondrial DNA variation in human evolution and disease

Wallace,D.C., Brown,M.D. and Lott,M.T.

Gene 238 (1), 211-230 (1999)

A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy

Shin,W.S., Tanaka,M., Suzuki,J., Hemmi,C. and Toyo-oka,T.

Am. J. Hum. Genet. 67 (6), 1617-1620 (2000)

Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese

Zhang,A.M., Zou,Y., Guo,X., Jia,X., Zhang,Q. and Yao,Y.G.

Biochem. Biophys. Res. Commun. 386 (2), 392-395 (2009)

Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs

Horai,S., Hayasaka,K., Kondo,R., Tsugane,K. and Takahata,N.

Proc. Natl. Acad. Sci. U.S.A. 92 (2), 532-536 (1995)

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS

Desquiret-Dumas,V., Gueguen,N., Barth,M., Chevrollier,A., Hancock,S., Wallace,D.C., Amati-Bonneau,P., Henrion,D., Bonneau,D., Reynier,P. and Procaccio,V.

Biochim. Biophys. Acta 1822 (6), 1019-1029 (2012)

Mitogenomes illuminate the origin and migration patterns of the indigenous people of the Canary Islands

Fregel,R., Ordonez,A.C., Santana-Cabrera,J., Cabrera,V.M., Velasco-Vazquez,J., Alberto,V., Moreno-Benitez,M.A., Delgado-Darias,T., Rodriguez-Rodriguez,A., Hernandez,J.C., Pais,J., Gonzalez-Montelongo,R., Lorenzo-Salazar,J.M., Flores,C., Cruz-de-Mercadal,M.C., Alvarez-Rodriguez,N., Shapiro,B., Arnay,M. and Bustamante,C.D.

PLoS ONE 14 (3), e0209125 (2019) Publication Status: Online-Only

Paleogenomic Evidence for Multi-generational Mixing between Neolithic Farmers and Mesolithic Hunter-Gatherers in the Lower Danube Basin

Gloria González-Fortes, Eppie R. Jones, Emma Lightfoot, Clive Bonsall, Catalin Lazar, Aurora Grandal-d’Anglade, María Dolores Garralda, Labib Drak, Veronika Siska, Angela Simalcsik, Adina Boroneanţ, Juan Ramón Vidal Romaní, Marcos Vaqueiro Rodríguez, Pablo Arias, Ron Pinhasi, Andrea Manica, Michael Hofreiter

The transition from hunting and gathering to farming involved profound cultural and technological changes. In Western and Central Europe, these changes occurred rapidly and synchronously after the arrival of early farmers of Anatolian origin, who largely replaced the local Mesolithic hunter-gatherers. Further east, in the Baltic region, the transition was gradual, with little or no genetic input from incoming farmers. Here we use ancient DNA to investigate the relationship between hunter-gatherers and farmers in the Lower Danube basin, a geographically intermediate area that is characterized by a rapid Neolithic transition but also by the presence of archaeological evidence that points to cultural exchange, and thus possible admixture, between hunter-gatherers and farmers. We recovered four human paleogenomes (1.1× to 4.1× coverage) from Romania spanning a time transect between 8.8 thousand years ago (kya) and 5.4 kya and supplemented them with two Mesolithic genomes (1.7× and 5.3×) from Spain to provide further context on the genetic background of Mesolithic Europe. Our results show major Western hunter-gatherer (WHG) ancestry in a Romanian Eneolithic sample with a minor, but sizeable, contribution from Anatolian farmers, suggesting multiple admixture events between hunter-gatherers and farmers. Dietary stable-isotope analysis of this sample suggests a mixed terrestrial/aquatic diet. Our results provide support for complex interactions among hunter-gatherers and farmers in the Danube basin, demonstrating that in some regions, demic and cultural diffusion were not mutually exclusive, but merely the ends of a continuum for the process of Neolithization.

The genomic ancestry of the Scandinavian Battle Axe Culture people and their relation to the broader Corded Ware horizon

Helena Malmström, Torsten Günther, Emma M. Svensson, Anna Juras, Magdalena Fraser, Arielle R. Munters, Łukasz Pospieszny, Mari Tõrv, Jonathan Lindström, Anders Götherström, Jan Storå and Mattias Jakobsson

The Neolithic period is characterized by major cultural transformations and human migrations, with lasting effects across Europe. To understand the population dynamics in Neolithic Scandinavia and the Baltic Sea area, we investigate the genomes of individuals associated with the Battle Axe Culture (BAC), a Middle Neolithic complex in Scandinavia resembling the continental Corded Ware Culture (CWC). We sequenced 11 individuals (dated to 3330–1665 calibrated before common era (cal BCE)) from modern-day Sweden, Estonia, and Poland to 0.26–3.24× coverage. Three of the individuals were from CWC contexts and two from the central-Swedish BAC burial ‘Bergsgraven’. By analysing these genomes together with the previously published data, we show that the BAC represents a group different from other Neolithic populations in Scandinavia, revealing stratification among cultural groups. Similar to continental CWC, the BAC-associated individuals display ancestry from the Pontic–Caspian steppe herders, as well as smaller components originating from hunter–gatherers and Early Neolithic farmers. Thus, the steppe ancestry seen in these Scandinavian BAC individuals can be explained only by migration into Scandinavia. Furthermore, we highlight the reuse of megalithic tombs of the earlier Funnel Beaker Culture (FBC) by people related to BAC. The BAC groups likely mixed with resident middle Neolithic farmers (e.g. FBC) without substantial contributions from Neolithic foragers.

Haplogroup J-Z640-Genetic Insight into the Levantine Bronze Age. DOI: 10.4172/2329-9002.1000209

Michael Waas, Doron Yacobi, Leon Kull, Vadim Urasin, Gregory Magoon, Wim Penninx, Adam Brown and Ines Nogueiro

This article aims at researching the evolution of J-Z640 using an interdisciplinary approach in order to clarify the leading historical and anthropological events that shaped this particular branch of the human Y chromosome. We compiled a STR (short tandem repeat) and SNP (single nucleotide polymorphism) dataset of 145 known or predicted J-Z640 samples among the customers of Family Tree DNA and Full Genomes Corporation, as well as publicly available samples. Amongst these, we analyzed the results of 41 samples that had undergone Next-Generation Sequencing (NGS) and 32 samples that had undergone SNP testing using Sanger Sequencing. From this data, we constructed a J-Z640 phylogenetic tree that was dated using the method. Our data revealed that Haplogroup J-Z640 is a Y chromosome lineage found most notably, in several minority groups within the Near East such as the Samaritans, Druze, Armenians and Jews. J-Z640 originated during the Bronze Age, most likely in the Levant. During the Bronze Age the haplogroup rapidly expanded with multiple ancient branches surviving to the present, evidencing population growth. Further population expansion, and contraction, was also observed in later periods. Based on its geographic dispersal and age of the haplogroup and its subclades, the founder population most likely belonged to Canaanites found in the Levant. Following the collapse of the late Bronze age system, from the Iron Age onwards there followed a period of “differentiation by culture”, with many of the ancient branches surviving to the present separated along ethno-religious lines.

Long-read sequencing and de novo assembly of a Chinese genome

Lingling Shi, Yunfei Guo, Chengliang Dong, John Huddleston, Hui Yang, Xiaolu Han, Aisi Fu, Quan Li, Na Li, Siyi Gong, Katherine E. Lintner, Qiong Ding, Zou Wang, Jiang Hu, Depeng Wang, Feng Wang, Lin Wang, Gholson J. Lyon, Yongtao Guan, Yufeng Shen, Oleg V. Evgrafov, James A. Knowles, Francoise Thibaud-Nissen, Valerie Schneider, Chack-Yung Yu, Libing Zhou, Evan E. Eichler, Kwok-Fai So & Kai Wang

Short-read sequencing has enabled the de novo assembly of several individual human genomes, but with inherent limitations in characterizing repeat elements. Here we sequence a Chinese individual HX1 by single-molecule real-time (SMRT) long-read sequencing, construct a physical map by NanoChannel arrays and generate a de novo assembly of 2.93 Gb (contig N50: 8.3 Mb, scaffold N50: 22.0 Mb, including 39.3 Mb N-bases), together with 206 Mb of alternative haplotypes. The assembly fully or partially fills 274 (28.4%) N-gaps in the reference genome GRCh38. Comparison to GRCh38 reveals 12.8 Mb of HX1-specific sequences, including 4.1 Mb that are not present in previously reported Asian genomes. Furthermore, long-read sequencing of the transcriptome reveals novel spliced genes that are not annotated in GENCODE and are missed by short-read RNA-Seq. Our results imply that improved characterization of genome functional variation may require the use of a range of genomic technologies on diverse human populations.

De novo assembly and phasing of a Korean human genome

Jeong-Sun Seo, Arang Rhie, Junsoo Kim, Sangjin Lee, Min-Hwan Sohn, Chang-Uk Kim, Alex Hastie, Han Cao, Ji-Young Yun, Jihye Kim, Junho Kuk, Gun Hwa Park, Juhyeok Kim, Hanna Ryu, Jongbum Kim, Mira Roh, Jeonghun Baek, Michael W. Hunkapiller, Jonas Korlach, Jong-Yeon Shin & Changhoon Kim

Advances in genome assembly and phasing provide an opportunity to investigate the diploid architecture of the human genome and reveal the full range of structural variation across population groups. Here we report the de novo assembly and haplotype phasing of the Korean individual AK1 (ref. 1) using single-molecule real-time sequencing2, next-generation mapping3, microfluidics-based linked reads4, and bacterial artificial chromosome (BAC) sequencing approaches. Single-molecule sequencing coupled with next-generation mapping generated a highly contiguous assembly, with a contig N50 size of 17.9 Mb and a scaffold N50 size of 44.8 Mb, resolving 8 chromosomal arms into single scaffolds. The de novo assembly, along with local assemblies and spanning long reads, closes 105 and extends into 72 out of 190 euchromatic gaps in the reference genome, adding 1.03 Mb of previously intractable sequence. High concordance between the assembly and paired-end sequences from 62,758 BAC clones provides strong support for the robustness of the assembly. We identify 18,210 structural variants by direct comparison of the assembly with the human reference, identifying thousands of breakpoints that, to our knowledge, have not been reported before. Many of the insertions are reflected in the transcriptome and are shared across the Asian population. We performed haplotype phasing of the assembly with short reads, long reads and linked reads from whole-genome sequencing and with short reads from 31,719 BAC clones, thereby achieving phased blocks with an N50 size of 11.6 Mb. Haplotigs assembled from single-molecule real-time reads assigned to haplotypes on phased blocks covered 89% of genes. The haplotigs accurately characterized the hypervariable major histocompatability complex region as well as demonstrating allele configuration in clinically relevant genes such as CYP2D6. This work presents the most contiguous diploid human genome assembly so far, with extensive investigation of unreported and Asian-specific structural variants, and high-quality haplotyping of clinically relevant alleles for precision medicine.

Genetic resiliency and the Black Death: No apparent loss of mitogenomic diversity due to the Black Death in medieval London and Denmark

Klunk,J., Duggan,A.T., Redfern,R., Gamble,J., Boldsen,J.L., Golding,G.B., Walter,B.S., Eaton,K., Stangroom,J., Rouillard,J.M., Devault,A., DeWitte,S.N. and Poinar,H.N.

Am. J. Phys. Anthropol. (2019) In press Publication Status: Available-Online prior to print

Mitochondrial haplogroups N9 and G are associated with metabolic syndrome among HIV-infected patients in China

Zhao,D., Ding,Y., Lin,H., Chen,X., Shen,W., Gao,M., Wei,Q., Zhou,S., Liu,X. and He,N.

AIDS Res. Hum. Retroviruses (2019) In press Publication Status: Available-Online prior to print

Ancient human mitochondrial genomes from Bronze Age Bulgaria: new insights into the genetic history of Thracians

Modi,A., Nesheva,D., Sarno,S., Vai,S., Karachanak-Yankova,S., Luiselli,D., Pilli,E., Lari,M., Vergata,C., Yordanov,Y., Dimitrova,D., Kalcev,P., Staneva,R., Antonova,O., Hadjidekova,S., Galabov,A., Toncheva,D. and Caramelli,D.

Sci Rep 9 (1), 5412 (2019) Publication Status: Online-Only

Resolving mitochondrial haplogroups B2 and B4 with next-generation mitogenome sequencing to distinguish Native American from Asian haplotypes

Wood,M.R., Sturk-Andreaggi,K., Ring,J.D., Huber,N., Bodner,M., Crawford,M.H., Parson,W. and Marshall,C.

Forensic Sci Int Genet 43, 102143 (2019) Publication Status: Available-Online prior to print

Insights into matrilineal genetic structure, differentiation and ancestry of Armenians based on complete mitogenome data

Derenko,M., Denisova,G., Malyarchuk,B., Hovhannisyan,A., Khachatryan,Z., Hrechdakian,P., Litvinov,A. and Yepiskoposyan,L.

Mol. Genet. Genomics (2019) In press Publication Status: Available-Online prior to print

Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma

Keatley,K., Stromei-Cleroux,S., Wiltshire,T., Rajala,N., Burton,G., Holt,W.V., Littlewood,D.T.J., Briscoe,A.G., Jung,J., Ashkan,K., Heales,S.J., Pilkington,G.J., Meunier,B., McGeehan,J.E., Hargreaves,I.P. and McGeehan,R.E.

Int J Mol Sci 20 (13), E3364 (2019) Publication Status: Online-Only

Analysis of functional variants in mitochondrial DNA of Finnish athletes

Kiiskila,J., Moilanen,J.S., Kytovuori,L., Niemi,A.K. and Majamaa,K.

BMC Genomics 20 (1), 784 (2019) Publication Status: Online-Only

Human origins in a southern African palaeo-wetland and first migrations

Chan,E.K.F., Timmermann,A., Baldi,B.F., Moore,A.E., Lyons,R.J., Lee,S.S., Kalsbeek,A.M.F., Petersen,D.C., Rautenbach,H., Fortsch,H.E.A., Bornman,M.S.R. and Hayes,V.M.

Nature 575, 185-189 (2019)

Recent kuru-induced female gene flow disrupted the coevolution of genes and languages in the Papua New Guinea highlands

Li,M., DeRosa,K.L., Mann,H., Spathis,R., Roome,A., Castellanos,D., Gowen,K., de Smet,T.S., Echard,J., Casey,K., Shamoon-Pour,M., Garruto,R.M. and Lum,K.

Am. J. Phys. Anthropol. (2020) In press Publication Status: Available-Online prior to print