New paper: Evolutionary history of a common psoriasis associated deletion

Following up our earlier insights into "ancient" human deletion polymorphisms that are shared with Neanderthals or Denisovans, we published a paper in BMC Evolutionary Biology, describing a small, but neat example of likely balancing selection acting on a large, common and psoriasis-associated deletion in humans. The haplotype that harbors this deletion show unusually high variation and an … Continue reading New paper: Evolutionary history of a common psoriasis associated deletion

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New Paper – The evolutionary roots of disease susceptibility and complex copy number variation

We just published a paper in Genome Biology and Evolution - "Atopic Dermatitis Susceptibility Variants In Filaggrin Hitchhike Hornerin Selective Sweep". It describes the unusual history of the genetic variation affecting the skin structural protein fillagrin. It turns out that a loss of selective pressure, adaptive restrains on a neighboring gene and a high mutation rate … Continue reading New Paper – The evolutionary roots of disease susceptibility and complex copy number variation

Lasker award for our paper in Human Biology

Congratulations to Eaaswar. His paper, "Geographic Distribution And Adaptive Significance Of Genomic Structural Variants: An Anthropological Genetics Perspective" was chosen for the Annual Gabriel W. Lasker Award for the best original scientific article published in the journal, Human Biology. From the editors' words: "The award was created to recognize Professor Lasker's more than 40 years of service … Continue reading Lasker award for our paper in Human Biology

New paper on structural variants and their anthropological relevance

Congratulations to Eaaswar. His paper, "Geographic Distribution And Adaptive Significance Of Genomic Structural Variants: An Anthropological Genetics Perspective" is out as preprint. It is a general review and a example data analysis of existing structural variation datasets within an anthropological context. It also made the cover. 🙂 - We hope that it would be helpful to … Continue reading New paper on structural variants and their anthropological relevance

First paper from our lab – Ancient deletions strike again and mysterious ways of adaptive forces

We have our first paper from the Buffalo laboratory published at Molecular Biology and Evolution (link here, it is Open Access). The paper describes polymorphic human deletions that are shared with Neandertals or Denisovans. Most of these deletions are not introgressed from ancient hominins, but rather have been lingering around since before Human/Neandertal/Denisovan ancestor. As expected majority … Continue reading First paper from our lab – Ancient deletions strike again and mysterious ways of adaptive forces

New Paper in Genome Research: Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division

We have a new paper regarding variation of retrotransposed genes among healthy individuals: In primates and other animals reverse transcription of mRNA followed by genomic integration creates retroduplications. Expressed retroduplications are either 'retrogenes' coding for functioning proteins or expressed 'processed pseudogenes', which can function as noncoding RNAs. To date, little is known about the variation … Continue reading New Paper in Genome Research: Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division

New Paper in PNAS: Primate genome architecture influences structural variation mechanisms and functional consequences

Our efforts to resequence and analyze primate genomes with a focus on genomic structural variation has now been published. Here is the link for the paper and here is the link for the curated datasets. The study, I think, is a major step forward to understand evolution of primate genomes. Now that several papers from Eichler … Continue reading New Paper in PNAS: Primate genome architecture influences structural variation mechanisms and functional consequences

New paper in PLoS Genetics – Balancing Selection shaping the distribution of a common deletion variant

Finally, our manuscript entitled "Balancing selection on a Regulatory Region Exhibiting Ancient Variation That Predates Human–Neandertal Divergence" was published in PLoS Genetics. You can find it here... It is Open Access. Also, link to the post regarding the manuscript in Dienekes' Anthropology Blog. Note the several interesting points that commentators were raising. Another recent blog post … Continue reading New paper in PLoS Genetics – Balancing Selection shaping the distribution of a common deletion variant