MITOMAP References for mtDNA Deletion: 8271:8281 -9 NR NR >999

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Index PMID Date Reference
1 1346259 1992 Ballinger, S.W., Schurr, T.G., Torroni, A., Gan, Y.Y., Hodge, J.A., Hassan, K., Chen, K.H., Wallace, D.C. (1992) Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations [published erratum appears in Genetics 1992 Apr;130(4):957] Genetics . 130 (1): 139-152 .
2 6311667 1983 Cann, R.L., Wilson, A.C. (1983) Length mutations in human mitochondrial DNA Genetics . 104 (4): 699-711 .
3 1559687 1992 Harihara, S., Hirai, M., Suutou, Y., Shimizu, K., Omoto, K. (1992) Frequency of a 9-bp deletion in the mitochondrial DNA among Asian populations Human Biology . 64 (2): 161-166 .
4 2929595 1989 Hertzberg, M., Mickleson, K.N.P., Serjeantson, S.W., Prior, J.F., Trent, R.J. (1989) An Asian specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians American Journal of Human Genetics . 44 (4): 504-510 .
5 8001909 1994 Lorenz, J.G., Smith, D.G. (1994) Distribution of the 9-bp mitochondrial DNA region V deletion among North American Indians Human Biology . 66 (5): 777-788 .
6 7872649 1994 Monsalve, M.V., Groot de Restrepo, H., Espinel, A., Correal, G., Devine, D.V. (1994) Evidence of mitochondrial DNA diversity in South American aboriginals Annals of Human Genetics . 58 (Pt 3): 265-273 .
7 8102506 1993 Passarino, G., Semino, O., Modiano, G., Santachiara-Benerecetti, A. S. (1993) COII / tRNALys intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (Southern Nepal) have oriental affinities American Journal of Human Genetics . 53 (3): 609-618 .
8 1968708 1990 Schurr, T.G., Ballinger, S.W., Gan, Y.Y., Hodge, J.A., Merriwether, D.A., Lawrence, D.N., Knowler, W.C., Weiss, K.M., Wallace, D.C. (1990) Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages American Journal of Human Genetics . 46 (3): 613-623 .
9 1550120 1992 Shields, G.F., Hecker, K., Voevoda, M.I., Reed, J.K. (1992) Absence of the Asian-specific region V mitochondrial marker in native Beringians American Journal of Human Genetics . 50 (4): 758-765 .
10 8304347 1994 Torroni, A., Chen, Y., Semino, O., Santachiara-Beneceretti, A.S., Scott, C.R., Lott, M.T., Winter, M., Wallace, D.C. (1994) MtDNA and Y-chromosome polymorphisms in four native American populations from southern Mexico American Journal of Human Genetics . 54 (2): 303-318 .
11 8147435 1994 Torroni, A., Miller, J.A., Moore, L.G., Zamudio, S., Zhuang, J., Droma, R., Wallace, D.C. (1994) Mitochondrial DNA analysis in Tibet. Implications for the origin of the Tibetan population and its adaptation to high altitude American Journal of Physical Anthropology . 93 (2): 189-199 .
12 7688932 1993 Torroni, A., Schurr, T.G., Cabell, M.F., Brown, M.D., Neel, J.V., Larsen, M., Smith, D.G., Vullo, C.M., Wallace, D.C. (1993) Asian affinities and continental radiation of the four founding Native American mtDNAs American Journal of Human Genetics . 53 (3): 563-590 .
13 1346260 1992 Torroni, A., Schurr, T.G., Yang, C.-C., Szathmary, E.J., Williams, R.C., Schanfield, M.S., Troup, G.A., Knowler, W.C., Lawrence, D.N., Weiss, K.M. (1992) Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations Genetics . 130 (1): 153-162 .
14 7688933 1993 Torroni, A., Sukernik, R.I., Schurr, T.G., Starikovskaya, Y.B., Cabell, M.F., Crawford, M.H., Comuzzie, A.G., Wallace, D.C. (1993) MtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans American Journal of Human Genetics . 53 (3): 591-608 .
15 1351474 1992 Wallace, D.C., Torroni, A. (1992) American Indian prehistory as written in the mitochondrial DNA: a review Human Biology . 64 (-): 403-416 .
16 2881260 1987 Wrischnik, L.A., Higuchi, R.G., Stoneking, M., Erlich, H.A., Arnheim, N., Wilson, A.C. (1987) Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA Nucleic Acids Research . 15 (-): 529-542 .
17 7726181 1995 Torroni, A., Wallace, D.C. (1995) MtDNA haplogroups in Native Americans [see also comment: Am. J. Hum. Genet. 56:1236-1238, 1995] American Journal of Human Genetics . 56 (5): 1234-1236 .
18 7635466 1995 Barrientos, A., Casademont, J., Solans, A., Moral, P., Cardellach, F., Urbano-Marquez, A., Estivill, X., Nunes, V. (1995) The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence. Human Genetics . 96 (-): 225-228 .
19 7611282 1995 Chen, Y.S., Torroni, A., Excoffier, L., Santachiara-Benerecetti, A.S., Wallace, D.C. (1995) Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. American Journal of Human Genetics . 57 (1): 133-149 .
20 7635293 1995 Kolman, C.J., Bermingham, E., Cooke, R., Ward, R.H., Arias, T.D., Guionneau-Sinclair, F. (1995) Reduced mtDNA diversity in the Ngobe Amerinds of Panama Genetics . 140 (1): 275-283 .
21 7668267 1995 Melton, T., Peterson, R., Redd, A.J., Saha, N., Sofro, A.S., Martinson, J., Stoneking, M. (1995) Polynesian genetic affinities with Southeast Asian populations as identified by mtDNA analysis American Journal of Human Genetics . 57 (2): 403-414 .
22 7659016 1995 Redd, A.J., Takezaki, N., Sherry, S.T., McGarvey, S.T., Sofro, A.S., Stoneking, M. (1995) Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific Molecular Biology and Evolution . 12 (4): 604-615 .
23 7668278 1995 Torroni, A., Petrozzi, M., Santolamazza, P., Sellitto, D., Cruciani, F., Scozzari, R. (1995) About the 'Asian-specific' 9-bp deletion of mtDNA.... American Journal of Human Genetics . 57 (2): 507-508 .
24 8651309 1996 Lahermo, P., Sajantila, A., Sistonen, P., Lukka, M., Aula, P., Peltonen, L., Savontaus, M.L. (1996) The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA American Journal of Human Genetics . 58 (6): 1309-1322 .
25 8644719 1996 Soodyall, H., Vigilant, L., Hill, A.V., Stoneking, M., Jenkins, T. (1996) mtDNA control-region sequence variation suggests multiple independent origins of an 'Asian-specific' 9-bp deletion in sub-Saharan Africans American Journal of Human Genetics . 58 (3): 595-608 .
26 9384601 1998 Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M., Amselem, S. (1998) Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders Human Molecular Genetics . 7 (1): 33-42 .
27 9684291 1998 Thomas, M.G., Cook, C.E., Miller, K.W., Waring, M.J., Hagelberg, E. (1998) Molecular instability in the COII-tRNA(Lys) intergenic region of the human mitochondrial genome: multiple origins of the 9-bp deletion and heteroplasmy for expanded repeats Philosophical Transactions of the Royal Society of London - Series B: Biological Sciences . 353 (1371): 955-965 .
28 9825592 1998 Dipierri, J.E., Alfaro, E., Martinez-Marignac, V.L., Bailliet, G., Bravi, C.M., Cejas, S., Bianchi, N.O. (1998) Paternal directional mating in two Amerindian subpopulations located at different altitudes in northwestern Argentina Human Biology . 70 (6): 1001-1010 .
29 9887373 1998 Abe, S., Usami, S., Shinkawa, H., Weston, M.D., Overbeck, L.D., Hoover, D.M., Kenyon, J.B., Horai, S., Kimberling, W.J. (1998) Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation European Journal of Human Genetics . 6 (6): 563-569 .
30 11938495 2002 Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 .
31 15638829 2005 Starikovskaya, E. B., Sukernik, R. I., Derbeneva, O. A., Volodko, N. V., Ruiz-Pesini, E., Torroni, A., Brown, M. D., Lott, M. T., Hosseini, S. H., Huoponen, K., Wallace, D. C. (2005) Mitochondrial DNA diversity in indigenous populations of the southern belt of Siberia and its implications for the origins and evolution of Native American haplogroups Annals of Human Genetics . 69 (Pt 1): 67-89 .
32 12802679 2003 Lehtonen, M. S., Moilanen, J. S., Majamaa, K. (2003) Increased variation in mtDNA in patients with familial sensorineural hearing impairment Human Genetics . 113 (3): 220-227 .
33 11424923 2001 Finnila, S., Autere, J., Lehtovirta, M., Hartikainen, P., Mannermaa, A., Soininen, H., Majamaa, K. (2001) Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln Journal of Medical Genetics . 38 (6): 400-405 .
34 15772853 2005 Thangaraj, K., Sridhar, V., Kivisild, T., Reddy, A. G., Chaubey, G., Singh, V. K., Kaur, S., Agarawal, P., Rai, A., Gupta, J., Mallick, C. B., Kumar, N., Velavan, T. P., Suganthan, R., Udaykumar, D., Kumar, R., Mishra, R., Khan, A., Annapurna, C., Singh, L. (2005) Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations Human Genetics . 116 (6): 507-517 .
35 22283196 2012 Jin, Y., Yu, Q., Zhou, D., Chen, L., Huang, X., Xu, G., Huang, J., Gao, X., Gao, Y., Shen, L. (2012) The mitochondrial DNA 9-bp deletion polymorphism is a risk factor for hepatocellular carcinoma in the Chinese population Genetic Testing and Molecular Biomarkers . 16 (5): 330-334 .
36 15120634 2004 Ruppert, V., Nolte, D., Aschenbrenner, T., Pankuweit, S., Funck, R., Maisch, B. (2004) Novel point mutations in the mitochondrial DNA detected in patients with dilated cardiomyopathy by screening the whole mitochondrial genome Biochemical and Biophysical Research Communications . 318 (2): 535-543 .
37 15708009 2005 Young, W. Y., Zhao, L., Qian, Y., Wang, Q., Li, N., Greinwald, J. H., Jr., Guan, M. X. (2005) Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation Biochemical and Biophysical Research Communications . 328 (4): 1244-1251 .
38 15707996 2005 Qu, J., Li, R., Tong, Y., Hu, Y., Zhou, X., Qian, Y., Lu, F., Guan, M. X. (2005) Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation Biochemical and Biophysical Research Communications . 328 (4): 1139-1145 .
39 8751859 1996 Horai, S., Murayama, K., Hayasaka, K., Matsubayashi, S., Hattori, Y., Fucharoen, G., Harihara, S., Park, K. S., Omoto, K., Pan, I. H. (1996) mtDNA polymorphism in East Asian populations, with special reference to the peopling of Japan American Journal of Human Genetics . 59 (3): 579-590 .
40 11236866 2000 Derenko, M. V., Malyarchuk, B. A., Dambueva, I. K., Shaikhaev, G. O., Dorzhu, C. M., Nimaev, D. D., Zakharov, I. A. (2000) Mitochondrial DNA variation in two South Siberian Aboriginal populations: implications for the genetic history of North Asia Human Biology . 72 (6): 945-973 .
41 16120283 2001 Ito, M., Tran Le, S., Chaudhari, D., Higashimoto, T., Maslim, A., Boles, R. G. (2001) Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease Mitochondrion . 1 (3): 269-278 .
42 16624503 2006 Li, R., Qu, J., Zhou, X., Tong, Y., Hu, Y., Qian, Y., Lu, F., Mo, J. Q., West, C. E., Guan, M. X. (2006) The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family Gene . 376 (1): 79-86 .
43 17160892 2007 Hill, C., Soares, P., Mormina, M., Macaulay, V., Clarke, D., Blumbach, P. B., Vizuete-Forster, M., Forster, P., Bulbeck, D., Oppenheimer, S., Richards, M. (2007) A mitochondrial stratigraphy for island southeast Asia American Journal of Human Genetics . 80 (1): 29-43 .
44 NA 2005 De Benedictis, G., Passarino, G. (2005) Mitochondrial DNA polymorphisms Encyclopedia of Life Sciences . Online publication (http://doi.org/10.1038/npg.els.0006163): 40570 .
45 17620140 2007 Gonzalez, A. M., Larruga, J. M., Abu-Amero, K. K., Shi, Y., Pestano, J., Cabrera, V. M. (2007) Mitochondrial lineage M1 traces an early human backflow to Africa BMC Genomics . 8 (-): 223 .
46 18223312 2008 Thangaraj, K., Chaubey, G., Kivisild, T., Selvi Rani, D., Singh, V. K., Ismail, T., Carvalho-Silva, D., Metspalu, M., Bhaskar, L. V., Reddy, A. G., Chandra, S., Pande, V., Prathap Naidu, B., Adarsh, N., Verma, A., Jyothi, I. A., Mallick, C. B., Shrivastava, N., Devasena, R., Kumari, B., Singh, A. K., Dwivedi, S. K., Singh, S., Rao, G., Gupta, P., Sonvane, V., Kumari, K., Basha, A., Bhargavi, K. R., Lalremruata, A., Gupta, A. K., Kaur, G., Reddy, K. K., Rao, A. P., Villems, R., Tyler-Smith, C., Singh, L. (2008) Maternal footprints of Southeast Asians in North India Human Heredity . 66 (1): 1-9 .
47 11669538 2001 Umetsu, K., Tanaka, M., Yuasa, I., Saitou, N., Takeyasu, I., Fuku, N., Naito, E., Ago, K., Nakayashiki, N., Miyoshi, A., Kashimura, S., Watanabe, G., Osawa, M. (2001) Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations Electrophoresis . 22 (16): 3533-3538 .
48 18307577 2008 Ricaut, F. X., Thomas, T., Arganini, C., Staughton, J., Leavesley, M., Bellatti, M., Foley, R., Mirazon Lahr, M. (2008) Mitochondrial DNA variation in Karkar Islanders Annals of Human Genetics . 72 (Pt 3): 349-367 .
49 18820594 2008 Wang, X., Lu, J., Zhu, Y., Yang, A., Yang, L., Li, R., Chen, B., Qian, Y., Tang, X., Wang, J., Zhang, X., Guan, M. X. (2008) Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families Pharmacogenetics and Genomics . 18 (12): 1059-1070 .