Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1986 Oct;39(4):502–512.

Genetic studies on the Tharu population of Nepal: restriction endonuclease polymorphisms of mitochondrial DNA.

A Brega, R Gardella, O Semino, G Morpurgo, G B Astaldi Ricotti, D C Wallace, A S Santachiara Benerecetti
PMCID: PMC1683983  PMID: 2876631

Abstract

The mitochondrial DNAs (mtDNAs) of 91 Tharus from Nepal were screened for restriction fragment length polymorphisms (RFLPs) using six highly informative restriction endonucleases. One pattern (morph) was found for BamHI, two for HpaI and HincII, three for HaeII, four for AvaII, and six for MspI. Two of the AvaII and four of the MspI morphs were "new" (not previously described). Virtually all of the "old" morphs found in the Tharus were previously observed in Orientals. The Oriental HaeII morph (HaeII-5) previously observed at a frequency of 5% was present in 25% of the Tharus. Of the 13 Tharu mtDNA types (defined by the six restriction endonuclease morphs) observed, five had previously been described ("old" types), all in Orientals. Three of these were unique for Orientals. All of the remaining eight "new" Tharu mtDNAs were all closely related to Oriental mtDNAs. Two of the "old" Tharu mtDNA types included the HpaI/HincII morph 1, a morph possibly indicative of the earliest human mtDNA types. From these data we have concluded that the Tharu mtDNAs are closely related to those of other Oriental populations. Further, our data support the hypothesis that human mtDNAs radiated from Asia.

Full text

PDF
502

Images in this article

506Fig. 2
on p.506
507Fig. 3
on p.507

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anderson S., Bankier A. T., Barrell B. G., de Bruijn M. H., Coulson A. R., Drouin J., Eperon I. C., Nierlich D. P., Roe B. A., Sanger F. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. doi: 10.1038/290457a0. [DOI] [PubMed] [Google Scholar]
  2. Benveniste R. E., Todaro G. J. Evolution of type C viral genes: evidence for an Asian origin of man. Nature. 1976 May 13;261(5556):101–108. doi: 10.1038/261101a0. [DOI] [PubMed] [Google Scholar]
  3. Blanc H., Chen K. H., D'Amore M. A., Wallace D. C. Amino acid change associated with the major polymorphic Hinc II site of Oriental and Caucasian mitochondrial DNAs. Am J Hum Genet. 1983 Mar;35(2):167–176. [PMC free article] [PubMed] [Google Scholar]
  4. Bonné-Tamir B., Johnson M. J., Natali A., Wallace D. C., Cavalli-Sforza L. L. Human mitochondrial DNA types in two Israeli populations--a comparative study at the DNA level. Am J Hum Genet. 1986 Mar;38(3):341–351. [PMC free article] [PubMed] [Google Scholar]
  5. Brown W. M. Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3605–3609. doi: 10.1073/pnas.77.6.3605. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Chomyn A., Mariottini P., Cleeter M. W., Ragan C. I., Matsuno-Yagi A., Hatefi Y., Doolittle R. F., Attardi G. Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. Nature. 1985 Apr 18;314(6012):592–597. doi: 10.1038/314592a0. [DOI] [PubMed] [Google Scholar]
  7. Denaro M., Blanc H., Johnson M. J., Chen K. H., Wilmsen E., Cavalli-Sforza L. L., Wallace D. C. Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1981 Sep;78(9):5768–5772. doi: 10.1073/pnas.78.9.5768. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Ferris S. D., Wilson A. C., Brown W. M. Evolutionary tree for apes and humans based on cleavage maps of mitochondrial DNA. Proc Natl Acad Sci U S A. 1981 Apr;78(4):2432–2436. doi: 10.1073/pnas.78.4.2432. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Giles R. E., Blanc H., Cann H. M., Wallace D. C. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6715–6719. doi: 10.1073/pnas.77.11.6715. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Giles R. E., Stroynowski I., Wallace D. C. Characterization of mitochondrial DNA in chloramphenicol-resistant interspecific hybrids and a cybrid. Somatic Cell Genet. 1980 Jul;6(4):543–554. doi: 10.1007/BF01539155. [DOI] [PubMed] [Google Scholar]
  11. Greenberg B. D., Newbold J. E., Sugino A. Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Gene. 1983 Jan-Feb;21(1-2):33–49. doi: 10.1016/0378-1119(83)90145-2. [DOI] [PubMed] [Google Scholar]
  12. Horai S., Gojobori T., Matsunaga E. Mitochondrial DNA polymorphism in Japanese. I. Analysis with restriction enzymes of six base pair recognition. Hum Genet. 1984;68(4):324–332. doi: 10.1007/BF00292594. [DOI] [PubMed] [Google Scholar]
  13. Johnson M. J., Wallace D. C., Ferris S. D., Rattazzi M. C., Cavalli-Sforza L. L. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol. 1983;19(3-4):255–271. doi: 10.1007/BF02099973. [DOI] [PubMed] [Google Scholar]
  14. Piazza A., Menozzi P., Cavalli-Sforza L. L. Synthetic gene frequency maps of man and selective effects of climate. Proc Natl Acad Sci U S A. 1981 Apr;78(4):2638–2642. doi: 10.1073/pnas.78.4.2638. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  16. Wallace D. C., Garrison K., Knowler W. C. Dramatic founder effects in Amerindian mitochondrial DNAs. Am J Phys Anthropol. 1985 Oct;68(2):149–155. doi: 10.1002/ajpa.1330680202. [DOI] [PubMed] [Google Scholar]
  17. Wallace D. C., Surti U., Adams C. W., Szulman A. E. Complete moles have paternal chromosomes but maternal mitochondrial DNA. Hum Genet. 1982;61(2):145–147. doi: 10.1007/BF00274205. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES