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Anne C. Stone
Ph.D., Pennsylvania State University, 1996
Associate Professor

SHESC Themes: Human Origins, Evolution and Diversity; Biological, Social and Cultural Dimensions of Human Health

Field specializations: genetics, pathology, physical anthropology, primatology

Regional focus: South America


About Research
As an associate professor in the School of Human Evolution and Social Change, my specialization and main area of interest is anthropological genetics. In particular, I am working on applications of population genetics to questions concerning the origins, population history and evolution of humans and the great apes. At present, my research focuses on the biological history of Native Americans and on the evolution and genetic diversity of the genus Pan, which includes chimpanzees and bonobos. I am also initiating a project to examine genetic susceptibility to tuberculosis in South Americans.

Past DNA studies have suggested that chimpanzee population history has been surprisingly different from humans, although chimpanzees are our nearest relatives. Unfortunately the fossil record for chimpanzees is virtually nonexistent and, thus, genetic investigation of present populations is the best method to examine this history. The primary aim of my research is to investigate genetic variation in chimpanzees, including Pan troglodytes, (the chimpanzee) and Pan paniscus (the bonobo) to provide a new perspective to test hypotheses about population history both within and between chimpanzee species. In addition, it will allow the comparison of chimpanzee and human demographic histories and, thus, can shed light on our own evolutionary history. This research also examines the adaptive history of genes of such as CCR5, implicated in infection by HIV, and PTC, a bitter taste receptor. Finally, the analysis of subspecies specific Y chromosome and mitochondrial DNA (mtDNA) markers within chimpanzees allows us to help clarify the origins of the zoo population.

The goal of my research on genetic diversity in human populations of the South-central Andes is to understand population history using mitochondrial DNA, Y chromosome, and autosomal loci in populations from geographically diverse parts of Per? and from different language and ethnic groups. This project is funded by the National Science Foundation and is in collaboration with Dr. Beatriz Lizarraga (Universidad Nacional Mayor de San Marcos) and Dr. Veronica Rubin de Celis (Universidad Ricardo Palma). The distribution of genetic diversity will be investigated in comparison with geography and linguistic diversity, and the extent of admixture between native and non-native peoples will be examined.

Tuberculosis is a significant health problem for the majority of the world?s populations and a growing body of evidence indicates that host genetics play an important role in determining susceptibility and resistance to the disease. Incidence of tuberculosis in Native American populations since European contact has been high; however, relatively little research into the genetics of susceptibility has been undertaken in these groups. The study examines such loci associated with tuberculosis susceptibility as the vitamin D receptor (VDR), natural resistance-associated macrophage protein 1 (NRAMP1), and mannose binding lectin (MBL). These genes have been associated with tuberculosis resistance and susceptibility in other world populations. This project, in collaboration with Dr. Magdalena Hurtado from the University of New Mexico, examines these genes in the Ache and Ava of Paraguay.

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Select Publications
Lewis CM, Tito R, Lizarraga B, and Stone AC (In Press)
Land, Language, and Loci: MtDNAin Native Americans and the Genetic History of Per?. American Journal of Physical Anthropology.

Wooding S, Stone AC, Dunn DM, Mummidi S, Jorde LB, Weiss RB, Ahuja SK, and Bamshad MJ (2005)
A selective sweep in chimpanzee CCR5 and resistance to AIDS. American Journal of Human Genetics 76:291-301.

Ramenofsky AF, Wilbur AK and Stone AC (2003)
Native American disease history: past, present, future directions. World Archaeology 35:241-257.

Bamshad M, Mummidi S, Gonzalez E, Ahuja SS, Dunn DM, Stone AC, Jorde LB, Ahuja SK, Weiss RB (2002)
Evidence of balancing selection in the 5? cis-regulatory region of CCR5. Proceedings of the National Academy of Sciences, USA 99:10539-10544

Stone AC, Griffiths RC, Zegura SL and Hammer M (2002)
High levels of Y-chromosome nucleotide diversity in the genus Pan troglodytes. Proceedings of the National Academy of Sciences, USA 99:43-48.

Stone AC, Starrs JE and Stoneking M (2001)
Mitochondrial DNA analysis of the presumptive remains of Jesse James. Journal of Forensic Sciences 46:173-176.

Stone AC and Stoneking M (1998)
MtDNA analysis of a prehistoric Oneota population: implications for the peopling of the New World. American Journal of Human Genetics 62(5):1153-1170.

Krings M, Stone AC, Schmitz RW, Krainitzki H, Stoneking M and P??bo S, Neandertal (1997)
DNA sequences and the origin of modern humans. Cell 90(1):19-30.

Handt O, Richards M, Trommsdorf M, Kilger C, Simanainen J, Georgiev O, Bauer K, Stone A, Hedges R, Schaffner W, Utermann G, Sykes B, and P??bo S (1994)
Molecular genetic analyses of the Tyrolean Ice Man. Science 264:1775-1778.

Stone AC and Stoneking M (1993)
Ancient DNA from a Pre-Columbian Amerindian population. American Journal of Physical Anthropology 92:463-471.

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Related Links
Anne Stone’s Web Page

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Curriculum Vitae: Download PDF

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Contact: Anne C. Stone