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- All Subjects: Sex Chromosomes
- All Subjects: Communicable diseases--Social aspects--Paraguay.
- Creators: Stone, Anne
- Status: Published
Description
The health situation of indigenous peoples is comparable to that of the world's poorest populations, but with the additional burdens of social and cultural marginalization, geographic and cultural barriers to accessing health services, and, in some areas, appropriation of land and natural resources. Cultural transmission (the transfer of beliefs, ideas, and behaviors from one culture to another) from outsider health institutions should presumably aid in closing this health gap by transferring knowledge, practices, and infrastructure to prevent and treat disease. This study examines the biosocial construction of the disease ecology of tuberculosis (TB) in indigenous communities of the Paraguayan Chaco with varying degrees of cultural transmission from outside institutions (government, religious, and NGOs), to determine the influence of cultural transmission on local disease ecologies. Using a biocultural epidemiological framework for the analysis of human infectious disease ecology, this study employed an interdisciplinary, mixed methods approach to examine the interactions of host, pathogen, and the environment in the Paraguayan Chaco. Three case studies examining aspects of TB disease ecology in indigenous communities are presented: (1) The effective cultural transmission of biomedical knowledge to isolated communities, (2) Public health infrastructure, hygiene, and the prevalence of intestinal parasites: co-morbidities that promote the progression to active TB disease, and (3) Community-level risk factors for TB and indigenous TB burden. Findings from the case studies suggest that greater influence from outside institutions was not associated with greater adoption of biomedical knowledge of TB. The prevalence of helminthiasis was unexpectedly low, but infection with giardia was common, even in a community with cleaner water sources. Communities with a health post were more likely to report active adult TB, while communities with more education were less likely to report active pediatric TB, suggesting that healthcare access is the major determinant of TB detection. More research is needed on the role of non-indigenous community residents and other measures of acculturation or integration in TB outcomes, especially at the household level. Indigenous TB burden in the Chaco is disproportionately high, and better understanding of the mechanisms that produce higher incidence and prevalence of the disease is needed.
ContributorsVansteelandt, Amanda (Author) / Hurtado, Ana Magdalena (Thesis advisor) / Stone, Anne (Thesis advisor) / Hruschka, Daniel (Committee member) / Rojas de Arias, Antonieta (Committee member) / Arizona State University (Publisher)
Created2014
Description
Unlike the autosomes, recombination on the sex chromosomes is limited to the pseudoautosomal regions (PARs) at each end of the chromosome. PAR1 spans approximately 2.7 Mb from the tip of the proximal arm of each sex chromosome, and a pseudoautosomal boundary between the PAR1 and non-PAR region is thought to have evolved from a Y-specific inversion that suppressed recombination across the boundary. In addition to the two PARs, there is also a human-specific X-transposed region (XTR) that was duplicated from the X to the Y chromosome. Genetic diversity is expected to be higher in recombining than nonrecombining regions, particularly because recombination reduces the effects of linked selection, allowing neutral variation to accumulate. We previously showed that diversity decreases linearly across the previously defined pseudoautosomal boundary (rather than drop suddenly at the boundary), suggesting that the pseudoautosomal boundary may not be as strict as previously thought. In this study, we analyzed data from 1271 genetic females to explore the extent to which the pseudoautosomal boundary varies among human populations (broadly, African, European, South Asian, East Asian, and the Americas). We found that, in all populations, genetic diversity was significantly higher in the PAR1 and XTR than in the non-PAR regions, and that diversity decreased linearly from the PAR1 to finally reach a non-PAR value well past the pseudoautosomal boundary in all populations. However, we also found that the location at which diversity changes from reflecting the higher PAR1 diversity to the lower nonPAR diversity varied by as much as 500 kb among populations. The lack of genetic evidence for a strict pseudoautosomal boundary and the variability in patterns of diversity across the pseudoautosomal boundary are consistent with two potential explanations: (1) the boundary itself may vary across populations, or (2) that population-specific demographic histories have shaped diversity across the pseudoautosomal boundary.
ContributorsCotter, Daniel Juetten (Author) / Wilson Sayres, Melissa (Thesis director) / Stone, Anne (Committee member) / Webster, Timothy (Committee member) / School of Life Sciences (Contributor) / School of International Letters and Cultures (Contributor) / Barrett, The Honors College (Contributor)
Created2016-12
Description
In species with highly heteromorphic sex chromosomes, the degradation of one of the sex chromosomes can result in unequal gene expression between the sexes (e.g., between XX females and XY males) and between the sex chromosomes and the autosomes. Dosage compensation is a process whereby genes on the sex chromosomes achieve equal gene expression which prevents deleterious side effects from having too much or too little expression of genes on sex chromsomes. The green anole is part of a group of species that recently underwent an adaptive radiation. The green anole has XX/XY sex determination, but the content of the X chromosome and its evolution have not been described. Given its status as a model species, better understanding the green anole genome could reveal insights into other species. Genomic analyses are crucial for a comprehensive picture of sex chromosome differentiation and dosage compensation, in addition to understanding speciation.
In order to address this, multiple comparative genomics and bioinformatics analyses were conducted to elucidate patterns of evolution in the green anole and across multiple anole species. Comparative genomics analyses were used to infer additional X-linked loci in the green anole, RNAseq data from male and female samples were anayzed to quantify patterns of sex-biased gene expression across the genome, and the extent of dosage compensation on the anole X chromosome was characterized, providing evidence that the sex chromosomes in the green anole are dosage compensated.
In addition, X-linked genes have a lower ratio of nonsynonymous to synonymous substitution rates than the autosomes when compared to other Anolis species, and pairwise rates of evolution in genes across the anole genome were analyzed. To conduct this analysis a new pipeline was created for filtering alignments and performing batch calculations for whole genome coding sequences. This pipeline has been made publicly available.
In order to address this, multiple comparative genomics and bioinformatics analyses were conducted to elucidate patterns of evolution in the green anole and across multiple anole species. Comparative genomics analyses were used to infer additional X-linked loci in the green anole, RNAseq data from male and female samples were anayzed to quantify patterns of sex-biased gene expression across the genome, and the extent of dosage compensation on the anole X chromosome was characterized, providing evidence that the sex chromosomes in the green anole are dosage compensated.
In addition, X-linked genes have a lower ratio of nonsynonymous to synonymous substitution rates than the autosomes when compared to other Anolis species, and pairwise rates of evolution in genes across the anole genome were analyzed. To conduct this analysis a new pipeline was created for filtering alignments and performing batch calculations for whole genome coding sequences. This pipeline has been made publicly available.
ContributorsRupp, Shawn Michael (Author) / Wilson Sayres, Melissa A (Thesis advisor) / Kusumi, Kenro (Committee member) / DeNardo, Dale (Committee member) / Arizona State University (Publisher)
Created2016