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Structural variation in the 3D genome
TLDR
The authors review the role of genetic structural variation in disease and the pathogenic potential of changes to the 3D genome.
Identification of Live Germ-Cell Desquamation as a Major Mechanism of Seasonal Testis Regression in Mammals: A Study in the Iberian Mole (Talpa occidentalis)1
TLDR
The results contradict the current paradigm that apoptosis is the major testis regression effector in vertebrates, as it is clearly not true in all mammals.
A MicroRNA (mmu-miR-124) Prevents Sox9 Expression in Developing Mouse Ovarian Cells1
TLDR
The results provide the first evidence of the involvement of a miRNA in the regulation of the gene controlling gonad development and sex determination, as well as the role of other miRNAs in the genetic control of mammalian sex determination.
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis
TLDR
Tissue-specific three-dimensional chromatin conformation can contribute to enhancer activity and specificity in vivo and its disturbance can result in gene misexpression and disease.
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
TLDR
This work describes an autosomal recessive human disease in two unrelated families characterized by a split-foot defect, nail abnormalities of the hands, and hearing loss, due to mutations disrupting the SAM domain of the protein kinase ZAK, which is identified as a key player in mammalian limb patterning.
Expression of Genes Controlling Testicular Development in Adult Testis of the Seasonally Breeding Iberian Mole
TLDR
Studying the spatio-temporal expression pattern of WT1, SF1, SOX9, AMH, and DMRT1 in 4 representative stages of the circannual cycle of the testes of Talpa occidentalis, a mole species with strict seasonal reproduction suggests that intratesticular levels of testosterone could regulatecircannual spermatogenic variations of seasonal breeders by modulating the expression of D MRT1 to control sperMatogonial proliferation.
Polymer physics predicts the effects of structural variants on chromatin architecture
TLDR
It is shown that SVs can reconfigure topologically associating domains, thereby producing extensive rewiring of regulatory interactions and causing disease by gene misexpression and providing a tool for analyzing the disease-causing potential of SVs.
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