Publications by authors named "G S Barsh"

The mutation in domestic cats causes variegated patches of reddish/yellow hair and is a defining signature of random X-inactivation in female tortoiseshell and calico cats. Unlike the situation for most coat color genes, there is no apparent homolog for in other mammals. We show that the is caused by a 5 kb deletion that leads to ectopic and melanocyte-specific expression of the ( ) gene.

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  • Scientists are studying the DNA of tigers to understand their genetic diversity and help protect them, especially since many tigers in the wild are endangered.
  • This research looks at tigers that are kept in captivity, like privately owned ones in the U.S., known as "Generic" tigers, which might have mixed ancestry from different tiger types.
  • The study found that these Generic tigers have similar genetic diversity to wild tigers and can help conservation efforts by creating a new way to identify tiger ancestry using less expensive genetic testing methods.
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  • Excessive vitamin D supplementation can lead to toxicity, which is uncommon but can cause serious symptoms primarily due to high calcium levels in the blood (hypercalcemia).
  • A case study is presented involving a young child who developed posterior reversible encephalopathy syndrome (PRES) alongside complications like high blood pressure, acute kidney failure, and respiratory issues, all linked to vitamin D toxicity.
  • This report aims to educate healthcare providers about the potential severe effects of high vitamin D levels in children and stresses the need for proper safety guidelines for vitamin supplementation among families.
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Purpose: We compared the rate of errors in genome sequencing (GS) result disclosures by genetic counselors (GC) and trained non-genetics healthcare professionals (NGHPs) in SouthSeq, a randomized trial utilizing GS in critically ill infants.

Methods: Over 400 recorded GS result disclosures were analyzed for major and minor errors. We used Fisher's exact test to compare error rates between GCs and NGHPs and performed a qualitative content analysis to characterize error themes.

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The Bengal cat breed was developed from intercrosses between the Asian leopard cat, Prionailurus bengalensis, and the domestic cat, Felis catus, with a last common ancestor approximately 6 million years ago. Predicted to derive ∼94% of their genome from domestic cats, regions of the leopard cat genome are thought to account for the unique pelage traits and ornate color patterns of the Bengal breed, which are similar to those of ocelots and jaguars. We explore ancestry distribution and selection signatures in the Bengal breed by using reduced representation and whole-genome sequencing from 947 cats.

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