Insertion/Deletion Polymorphisms in Tribal Populations of Southern India and Their Possible Evolutionary Implications

Vishwanathan, H.; Edwin, Deepa; Usharani, M. V.; Majumder, Partha P.

doi:10.1353/hub.2004.0013

Cited by 20 publications

(24 citation statements)

References 23 publications

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“…Overall, the level of G ST at all loci in the present set of populations is moderate (6.4%). This level of differentiation is slightly lower than that observed in populations from East and North (6.8%), and South India (8.3%) (Majumder et al 1999, Vishwanathan et al 2003, but direct comparisons are not applicable as the number of loci are different in these analyses. The observed G ST level is still nearly five times greater than using blood group, red cell enzyme and serum protein markers Papiha, 1994, Papiha 1996), and provides evidence that an appreciable amount of inter-population differentiation is reflected in polymorphic Alu insertions.…”

Section: Alu Insertion Polymorphismscontrasting

confidence: 60%

“…While there are many reports on Alu polymorphisms in different populations of the world (Batzer et al 1996;Stoneking et al 1997;Watkins et al 2003), studies from the Indian subcontinent are limited to relatively small number of loci and populations (Majumder et al 1999;Vishwanathan et al 2003;Tripathi et al 2008, Kanthimathi et al 2008Yadav and Arora 2011;Meitei et al 2010, Kshatriya et al 2012. In order to extend and document genetic variation of Alu polymorphisms, we have analysed systematically 40 Alu insertion polymorphisms in 18 endogamous populations (n=2200).…”

Section: Alu Insertion Polymorphismsmentioning

confidence: 99%

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Unity in diversity: an overview of the genomic anthropology of India

Mastana

2014

Annals of Human Biology

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Context: India is considered a treasure for geneticists and evolutionary biologists due to its vast human diversity, consisting of more than 4500 anthropologically well-defined populations (castes, tribes and religious groups). Each population differs in terms of endogamy, language, culture, physical features, geographic and climatic position and genetic architecture. These factors contributed to India-specific genetic variations which may be responsible for various common diseases in India and its migratory populations.As a result, interpretations of the origins and affinities of Indian populations as well as health and disease conditions require complex and sophisticated genetic analysis.Evidence of ancient human dispersals and settlements is preserved in the genome of Indian inhabitants and this has been extensively analysed in conventional and genomic analyses.Objective and Methods: Using genomic analyses of STRs and Alu on a set of populations, we estimate the level and extent of genetic variation and its implications.Results: The results show that Indian populations have higher level of unique genetic diversity which is structured by many social processes and geographical attributes of the country.Conclusion: This overview highlights the need to study the anthropological structure and evolutionary history of Indian populations while designing genomic and epigenomic investigations.

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Section: Alu Insertion Polymorphismscontrasting

confidence: 60%

Section: Alu Insertion Polymorphismsmentioning

confidence: 99%

Unity in diversity: an overview of the genomic anthropology of India

Mastana

2014

Annals of Human Biology

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“…The allele frequency distribution pattern of the populations studied in this paper is quite similar to those observed in other Indian populations (Majumder et al, 1999;Mukherjee et al, 2000;Veerraju et al, 2001;Vishwanathan et al, 2003;Saraswathy et al, 2008). The relatively higher heterozygosity (0.21-0.5) and G ST (4.9%) values reflect the genetic heterogeneity in the studied populations.…”

Section: Discussionsupporting

confidence: 83%

“…The relatively higher heterozygosity (0.21-0.5) and G ST (4.9%) values reflect the genetic heterogeneity in the studied populations. Earlier studies have reported G ST values ranging from as low as 2.5% (Mukherjee et al, 2000) among Madhya Pradesh populations to as high as 8.3% among Southern Indian populations (Vishwanathan et al, 2003).…”

Section: Discussionmentioning

confidence: 91%

“…The neighbour joining tree was constructed based on the DA matrix (Saitou and Nei, 1987). In order to determine the population clustering of the populations studied, principal coordinate analysis was carried out using available data on world populations (Stoneking et al, 1997;Majumder et al, 1999;Mukherjee et al, 2000;Nasidze et al, 2001;Antunez-de-Mayolo et al, 2002;Vishwanathan et al, 2003;Comas et al, 2004;Saraswathy et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

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Genetic sketch of the six population groups of Rajasthan: a study based on 12 autosomal loci

Dada

Saraswathy

Meitei

et al. 2011

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Rajasthan lies on the northwest border of India, and has acted as a major route for human movements since prehistoric and historic times. The present study was conducted to gain an insight into inter-and intrapopulation affinities or variations among the six population groups of Rajasthan. DNA samples from 221 unrelated individuals belonging to six endogamous population groups of Rajasthan, including both tribal (Bhil, Damaria, Garasia, Mina and Saharia) and caste populations (Rajput) were screened for 12 DNA (seven Alu indel and five RFLP) markers. All the loci were found to be polymorphic in all the studied populations. The G ST values which determine the genetic differentiation between the population ranges from 1.5% in LPL to 8.7% in APO. This study suggests that the population groups of Rajasthan are genetically close to other Indian populations, reflecting a common genetic unity among the Indian populations. The study also indicates European gene flow into the populations studied in this paper.

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Mobile DNA elements in primate and human evolution

Xing

Witherspoon

Ray

et al. 2007

Am. J. Phys. Anthropol.

125

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Roughly 50% of the primate genome consists of mobile, repetitive DNA sequences such as Alu and LINE1 elements. The causes and evolutionary consequences of mobile element insertion, which have received considerable attention during the past decade, are reviewed in this article. Because of their unique mutational mechanisms, these elements are highly useful for answering phylogenetic questions. We demonstrate how they have been used to help resolve a number of questions in primate phylogeny, including the humanchimpanzee-gorilla trichotomy and New World primate phylogeny. Alu and LINE1 element insertion polymorphisms have also been analyzed in human populations to test hypotheses about human evolution and population affinities and to address forensic issues. Finally, these elements have had impacts on the genome itself. We review how they have influenced fundamental ongoing processes like nonhomologous recombination, genomic deletion, and X chromosome inactivation. Yrbk Phys Mobile DNA elements are discrete DNA sequences that have the remarkable ability to transport or duplicate themselves to other regions of the genome. This process has been occurring in virtually all organisms for many millions of years. As a result, mobile elements are a major component of human and nonhuman primate genomes, accounting for 40-50% of their contents (Lander et al., 2001;CSAC, 2005;Gibbs et al., 2007). The properties and applications of these mobile elements have been the subject of increasing interest during the past two decades. In this review, we will focus on several areas in which the study of mobile elements has made significant contributions to physical anthropology.Because of their unique manner of propagating themselves in the genome, mobile elements are highly useful in tracing relationships of individuals, populations, and species. We will demonstrate how these elements have been used to resolve questions about primate systematics. We will then show how they have been useful in addressing questions about human origins, population affinities, and population history. The potential to use mobile elements as forensic tools, both in human and in nonhuman primates, will be discussed next. Finally, the presence of more than one million mobile elements in the primate genome has had a significant impact on processes such as nonhomologous recombination, genomic deletion and duplication, and gene conversion. The nature and consequences of this impact will be the final topic of the review. Before reviewing these applications, we begin with a brief discussion of the basic biology that underlies mobile elements and their behavior in the genome.

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Insertion/Deletion Polymorphisms in Tribal Populations of Southern India and Their Possible Evolutionary Implications

Cited by 20 publications

References 23 publications

Unity in diversity: an overview of the genomic anthropology of India

Unity in diversity: an overview of the genomic anthropology of India

Genetic sketch of the six population groups of Rajasthan: a study based on 12 autosomal loci

Mobile DNA elements in primate and human evolution

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