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A comprehensive allele specific expression resource for the equine transcriptome

delete2025-01-30
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AI
H
H. D. Heath
S
Sichong Peng
T
Tomasz Szmatoła
R
Rebecca R. Bellone
K
Kalbfleisch, Theodore
J
Jessica L. Petersen
C
Carrie J. Finno *
DOI:10.1186/s12864-025-11240-6delete
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摘要

摘要

En 中文
BackgroundAllele-specific expression (ASE) analysis provides a nuanced view of cis-regulatory mechanisms affecting gene expression.ResultsAn equine ASE analysis was performed, using integrated Iso-seq and short-read RNA sequencing data from four healthy Thoroughbreds (2 mares and 2 stallions) across 9 tissues from the Functional Annotation of Animal Genomes (FAANG) project. Allele expression was quantified by haplotypes from long-read data, with 42,900 allele expression events compared. Within these events, 635 (1.48%) demonstrated ASE, with liver tissue containing the highest proportion. Genetic variants within ASE events were located in histone modified regions 64.2% of the time. Validation of allele-specific variants, using a set of 66 equine liver samples from multiple breeds, confirmed that 97% of variants demonstrated ASE.ConclusionsThis valuable publicly accessible resource is poised to facilitate investigations into regulatory variation in equine tissues. Our results highlight the tissue-specific nature of allelic imbalance in the equine genome.
Keyword:
Epigenetics
FAANG
Haplotype
Horse
RNA-sequencing
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BMC Genomics
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3.7
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university of california davis
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University of California System
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