Health status, perceptions and needs of Hispanics in rural Shelbyville, Kentucky.

This cross-sectional study was completed to characterize the health status, perceptions and needs of Hispanics in Shelbyville, KY, USA. Community Health Workers interviewed 668 Hispanic residents in Shelbyville, KY, USA. Data were collected from 2009 to 2010 and analyzed from 2011 until present. Hispanic immigrants from Mexico and other Central American countries completed the survey. The most common self-reported diseases were allergies, asthma, diabetes, lung disease and cardiovascular disease. High blood pressure and diabetes were the two most common diagnoses among insured, older females. Health education, disease prevention and nutrition were the top health concerns among participants. Deficits in health care infrastructure for this largely transient community may compromise their ability to meet health care needs and concerns. Similar issues may be faced by other disadvantaged Hispanic communities in the continental US and likely to be influenced by anticipated provisions of the Patient Protection and Affordable Care Act.

Prehistoric genomes reveal the genetic foundation and cost of horse domestication.

The domestication of the horse ∼ 5.5 kya and the emergence of mounted riding, chariotry, and cavalry dramatically transformed human civilization. However, the genetics underlying horse domestication are difficult to reconstruct, given the near extinction of wild horses. We therefore sequenced two ancient horse genomes from Taymyr, Russia (at 7.4- and 24.3-fold coverage), both predating the earliest archeological evidence of domestication. We compared these genomes with genomes of domesticated horses and the wild Przewalski's horse and found genetic structure within Eurasia in the Late Pleistocene, with the ancient population contributing significantly to the genetic variation of domesticated breeds. We furthermore identified a conservative set of 125 potential domestication targets using four complementary scans for genes that have undergone positive selection. One group of genes is involved in muscular and limb development, articular junctions, and the cardiac system, and may represent physiological adaptations to human utilization. A second group consists of genes with cognitive functions, including social behavior, learning capabilities, fear response, and agreeableness, which may have been key for taming horses. We also found that domestication is associated with inbreeding and an excess of deleterious mutations. This genetic load is in line with the "cost of domestication" hypothesis also reported for rice, tomatoes, and dogs, and it is generally attributed to the relaxation of purifying selection resulting from the strong demographic bottlenecks accompanying domestication. Our work demonstrates the power of ancient genomes to reconstruct the complex genetic changes that transformed wild animals into their domesticated forms, and the population context in which this process took place.

Assessment of genetic variation for the LINE-1 retrotransposon from next generation sequence data.

BACKGROUND: In humans, copies of the Long Interspersed Nuclear Element 1 (LINE-1) retrotransposon comprise 21% of the reference genome, and have been shown to modulate expression and produce novel splice isoforms of transcripts from genes that span or neighbor the LINE-1 insertion site. RESULTS: In this work, newly released pilot data from the 1000 Genomes Project is analyzed to detect previously unreported full length insertions of the retrotransposon LINE-1. By direct analysis of the sequence data, we have identified 22 previously unreported LINE-1 insertion sites within the sequence data reported for a mother/father/daughter trio. CONCLUSIONS: It is demonstrated here that next generation sequencing data, as well as emerging high quality datasets from individual genome projects allow us to assess the amount of heterogeneity with respect to the LINE-1 retrotransposon amongst humans, and provide us with a wealth of testable hypotheses as to the impact that this diversity may have on the health of individuals and populations.

A stochastic model of gene transcription: an application to L1 retrotransposition events.

A simplified mathematical model of gene transcription is presented based on a system of coupled chemical reactions and a corresponding set of stochastic equations similar to those used in enzyme kinetics theory. The quasi-stationary distribution for the model is derived and its usefulness illustrated with an example of model parameters estimation using sparse time course data on L1 retrotransposon expression kinetics. The issue of model validation is also discussed and a simple validation procedure for the estimated model is devised. The procedure compares model predicted values with the laboratory data via the standard Bayesian techniques with the help of modern Markov-Chain Monte-Carlo methodology.