Project description:Standardized muscular biopsies of the dorsal compartment of the gluteus medius muscle were performed in 7 horses suffering from equine polysaccharide storage myopathy (PSSM) and 6 sound Norman Cob horses . Gene expression analysis was performed using an equine oligonucleotide microarray which included 384 equine gene probes of the nuclear genome and all the mitochondrial genes. All the samples of PSSM muscles were hybridized against the reference control muscles. This reference was made by pooling together all the mRNA extracted after in vitro transcription from the 6 control muscles of the sound horses. Briefly, the hybridization protocol was adapted from Le Brigand et al. (2006). An open-access long oligonucleotide microarray resource for analysis of the human and mouse transcriptomes. Nucleic Acids Res. 2006 Jul 19;34(12).
Project description:In the present study we analyzed centromeric localization on chromosome 11 in different horses and results showed that each individual exhibits a different arrangement of CENP-A binding domains.
Project description:Investigating genome-wide characteristics of CNVs in 6 horses representing 6 distinct breeds by using the aCGH method and performed GO and KEGG analysis for the CNVs genes.This result is an important complement to the mapping of horse whole-genome CNVs and helpful to study plateau horses’ adaption to the plateau’s environment.
Project description:Mitochondrial DNA (mtDNA) breaks are deleterious lesions that lead to degradation of mitochondrial genomes and subsequent reduction in mtDNA copy number. The signaling pathways activated in response to mtDNA damage remain ill-defined. Using mitochondrial targeted restriction enzymes, we show that cells with mtDNA breaks exhibit reduced respiratory complexes, loss of membrane potential, and mitochondrial protein import defect. Furthermore, mtDNA damage activates the integrated stress response (ISR) through phosphorylation of eIF2α by the OMA1-DELE1-HRI pathway. Electron microscopy reveals concomitant defects in mitochondrial membranes and cristae ultrastructure. Notably, inhibition of the ISR exacerbates mitochondrial defects and delays the recovery of mtDNA copy number, thereby implicating this stress response in mitigating mitochondrial dysfunction following mtDNA damage. Last, we provide evidence suggesting that ATAD3A, a membrane-anchored protein that interacts with nucleoids, relays the signal from mtDNA breaks to the inner mitochondrial membrane. Altogether, our study fully delineates the sequence of events linking damaged mitochondrial genomes with the cytoplasm and uncovers an unanticipated role for the ISR in response to mitochondrial genome instability.
Project description:The mammalian testis is a highly heterogeneous tissue with a vast array of functional and regulatory RNA molecules that participate in the timely control of the spermatogenesis. This process remains largely unexplored in stallions. We utilized transcriptomic analysis to explore gene expression across various stages of testicular development in horses, from infancy to adulthood, including sperm. The analysis aimed to explore the regulatory networks involving messenger RNAs (mRNAs), long non-coding RNAs (lncRNAs), circular RNAs (circRNAs), and microRNAs (miRNAs). High-throughout RNA sequencing revealed dynamic changes in gene expression. The study identified key genes complex interactions between mRNAs, lncRNAs, circRNAs and miRNAs, and biological pathways associated with each developmental stage that drive the spermatogenesis in stallions and provide new insights into the regulatory mechanisms of horse testis spermatogenesis. This could aid in the improvement of the reproductive health and fertility management in horses.
Project description:The mammalian testis is a highly heterogeneous tissue with a vast array of functional and regulatory RNA molecules that participate in the timely control of the spermatogenesis. This process remains largely unexplored in stallions. We utilized transcriptomic analysis to explore gene expression across various stages of testicular development in horses, from infancy to adulthood, including sperm. The analysis aimed to explore the regulatory networks involving messenger RNAs (mRNAs), long non-coding RNAs (lncRNAs), circular RNAs (circRNAs), and microRNAs (miRNAs). High-throughout RNA sequencing revealed dynamic changes in gene expression. The study identified key genes complex interactions between mRNAs, lncRNAs, circRNAs and miRNAs, and biological pathways associated with each developmental stage that drive the spermatogenesis in stallions and provide new insights into the regulatory mechanisms of horse testis spermatogenesis. This could aid in the improvement of the reproductive health and fertility management in horses.
Project description:38 horses from 16 diverse breeds and Przewalski's Horse were used to generate a composite CNV map of equine genome. This map was used to detect novel copy number variation in six horses affected with disorder of sexual development (DSD).