MITOMAP References for Variant A>C at 16220

Download PMID list

Index PMID Date Reference
1 2316527 1990 Horai, S., Hayasaka, K. (1990) Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA American Journal of Human Genetics . 46 (4): 828-842 .
2 8217870 1993 Piercy, R., Sullivan, K.M., Benson, N., Gill, P. (1993) The application of mitochondrial DNA typing to the study of white Caucasian genetic identification International Journal of Legal Medicine . 106 (2): 85-90 .
3 7762985 1995 Bertranpetit, J., Sala, J., Calafell, F., Underhill, P.A., Moral, P., Comas, D. (1995) Human mitochondrial DNA variation and the origin of Basques Annals of Human Genetics . 59 (Pt 1): 63-81 .
4 10229384 1999 Kittles, R. A., Bergen, A. W., Urbanek, M., Virkkunen, M., Linnoila, M., Goldman, D., Long, J. C. (1999) Autosomal, mitochondrial, and Y chromosome DNA variation in Finland: evidence for a male-specific bottleneck American Journal of Physical Anthropology . 108 (4): 381-399 .
5 11140950 2000 Yao, Y. G., Watkins, W. S., Zhang, Y. P. (2000) Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the peopling of east and southeast Asia Human Genetics . 107 (5): 504-512 .
6 12935592 2003 Nagai, A., Nakamura, I., Shiraki, F., Bunai, Y., Ohya, I. (2003) Sequence polymorphism of mitochondrial DNA in Japanese individuals from Gifu Prefecture Legal Medicine . 5 (Suppl 1): S210-213 .
7 NA 2005 Lian, L. H., Koh, C. L. (2005) Genetic polymorphisms in mitochondrial DNA hypervariable regions I, II and III of the Malaysian population Asia-Pacific Journal of Molecular Biology and Biotechnology . 13 (2): 79-85 .
8 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 .
9 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 .
10 16404693 2006 Behar, D. M., Metspalu, E., Kivisild, T., Achilli, A., Hadid, Y., Tzur, S., Pereira, L., Amorim, A., Quintana-Murci, L., Majamaa, K., Herrnstadt, C., Howell, N., Balanovsky, O., Kutuev, I., Pshenichnov, A., Gurwitz, D., Bonne-Tamir, B., Torroni, A., Villems, R., Skorecki, K. (2006) The matrilineal ancestry of Ashkenazi jewry: portrait of a recent founder event American Journal of Human Genetics . 78 (3): 487-497 .
11 16714301 2006 Kong, Q. P., Bandelt, H. J., Sun, C., Yao, Y. G., Salas, A., Achilli, A., Wang, C. Y., Zhong, L., Zhu, C. L., Wu, S. F., Torroni, A., Zhang, Y. P. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations Human Molecular Genetics . 15 (13): 2076-2086 .
12 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 .
13 18376149 2008 Pang, L. J., Shao, J. Y., Liang, X. M., Xia, Y. F., Zeng, Y. X. (2008) Mitochondrial DNA somatic mutations are frequent in nasopharyngeal carcinoma Cancer Biology and Therapy . 7 (2): 198-207 .
14 18637035 2008 Rose, G., Longo, T., Maletta, R., Passarino, G., Bruni, A. C., De Benedictis, G. (2008) No evidence of association between frontotemporal dementia and major European mtDNA haplogroups European Journal of Neurology . 15 (9): 1006-1008 .
15 19818876 2010 Lu, J., Qian, Y., Li, Z., Yang, A., Zhu, Y., Li, R., Yang, L., Tang, X., Chen, B., Ding, Y., Li, Y., You, J., Zheng, J., Tao, Z., Zhao, F., Wang, J., Sun, D., Zhao, J., Meng, Y., Guan, M. X. (2010) Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation Mitochondrion . 10 (1): 69-81 .
16 21059792 2011 van Oven, M., Hammerle, J. M., van Schoor, M., Kushnick, G., Pennekamp, P., Zega, I., Lao, O., Brown, L., Kennerknecht, I., Kayser, M. (2011) Unexpected island effects at an extreme: reduced Y chromosome and mitochondrial DNA diversity in Nias Molecular Biology and Evolution . 28 (4): 1349-1361 .
17 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .