Endangered species hold clues to human evolution.

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2010-07

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Abstract

We report that 18 conserved, and by extension functional, elements in the human genome are the result of retroposon insertions that are evolving under purifying selection in mammals. We show evidence that 1 of the 18 elements regulates the expression of ASXL3 during development by encoding an alternatively spliced exon that causes nonsense-mediated decay of the transcript. The retroposon that gave rise to these functional elements was quickly inactivated in the mammalian ancestor, and all traces of it have been lost due to neutral decay. However, the tuatara has maintained a near-ancestral version of this retroposon in its extant genome, which allows us to connect the 18 human elements to the evolutionary events that created them. We propose that conservation efforts over more than 100 years may not have only prevented the tuatara from going extinct but could have preserved our ability to understand the evolutionary history of functional elements in the human genome. Through simulations, we argue that species with historically low population sizes are more likely to harbor ancient mobile elements for long periods of time and in near-ancestral states, making these species indispensable in understanding the evolutionary origin of functional elements in the human genome.

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10.1093/jhered/esq016

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Lowe, Craig B, Gill Bejerano, Sofie R Salama and David Haussler (2010). Endangered species hold clues to human evolution. The Journal of heredity, 101(4). pp. 437–447. 10.1093/jhered/esq016 Retrieved from https://hdl.handle.net/10161/17405.

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Lowe

Craig Lowe

Assistant Professor of Molecular Genetics and Microbiology

Craig Lowe is an Assistant Professor in the Department of Molecular Genetics and Microbiology.  His research interests are in understanding how traits and characteristics of humans, and other vertebrates, are encoded in their genomes.  He is especially focused on adaptations and disease susceptibilities that are unique to humans.  To address these questions, Craig uses both computational and experimental approaches.  Craig's recent research has been on differences in how genes are regulated between species, or between different individuals within a species, and how this causes traits to differ.  All students in Craig's lab are exposed to an interdisciplinary environment; current lab members have backgrounds in mathematics, computer science, neuroscience, developmental biology, and genetics.  Each year Craig teaches one or two courses on rotating topics of: ancient DNA, ethical issues in genomics, and software development for genetic analyses.


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