Global climate change has a significant effect on extreme environments and a profound influence on species survival. However, little is known of the genome-wide pattern of livestock adaptations to extreme environments over a short time frame following domestication. Sheep (Ovis aries) have become well adapted to a diverse range of agroecological zones, including certain extreme environments (e.g., plateaus and deserts), during their post-domestication (approximately 8-9 kya) migration and differentiation. Here, we generated whole-genome sequences from 77 native sheep, with an average effective sequencing depth of ∼5× for 75 samples and ∼42× for 2 samples. Comparative genomic analyses among sheep in contrasting environments, that is, plateau (>4,000 m above sea level) versus lowland ( 1500 m) versus low-altitude region ( 600 mm), and arid zone ( 400 mm), detected a novel set of candidate genes as well as pathways and GO categories that are putatively associated with hypoxia responses at high altitudes and water reabsorption in arid environments. In addition, candidate genes and GO terms functionally related to energy metabolism and body size variations were identified. This study offers novel insights into rapid genomic adaptations to extreme environments in sheep and other animals, and provides a valuable resource for future research on livestock breeding in response to climate change.

/pdf/whole-genome-sequencing-of-native-sheep-provides-insights-4gnk8gbm6m.pdf

Whole-Genome Sequencing of Native Sheep Provides Insights into Rapid Adaptations to Extreme Environments

Genetic Disorders of Parathyroid Development and Function.

Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.

Heart- and neural crest derivatives-expressed (Hand) proteins belong to the Twist family of the basic helix-loop-helix (bHLH) transcription factors, and play crucial roles in the development of several organs. They form heterodimers with Twist1 via their HLH domain. Disruption of the expression balance between Hand2 and Twist1 causes limb malformation, indicating that the expression level of Hand2 relative to Twist1 is essential for limb development. Mutations of the TWIST1 and TWIST2 genes are involved in human diseases. Although, the functions of the Hand proteins are indispensable for limb, heart, and craniofacial development, mutations of the Hand genes that are causative of human diseases remain elusive. Recently, comparative analyses of a human chromosomal disorder, partial trisomy distal 4q, and its mouse model, which is a spontaneously occurring mutant, clearly demonstrated that over dosage of Hand2 results in developmental defects of limbs, craniofacial, and lumbar vertebrae, and that trisomy of the Hand2 gene directly causes a human congenital disorder. In this review, we focus on gene dosage effect of Hand2 in limb, heart, and craniofacial development, and discuss its implication in human diseases.

The Hand2 gene dosage effect in developmental defects and human congenital disorders.

https://gladstone.org/u/dsrivastava/Articles/Aiyer_DevBiol2005.pdf

Loss of Apaf-1 leads to partial rescue of the HAND2-null phenotype

https://gladstone.org/u/dsrivastava/Articles/Villanueva_Genomics2002.pdf

Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene.

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Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene.