The genetic regulation of hair density in animals remains poorly understood.The Dazu black goat,characterized by its black coarse hair and white skin,provides a unique model for dissecting coarse hair density(CHD).Usi...The genetic regulation of hair density in animals remains poorly understood.The Dazu black goat,characterized by its black coarse hair and white skin,provides a unique model for dissecting coarse hair density(CHD).Using high-resolution micro-camera imaging,this study analyzed 905 skin images,33 skin transcriptomes,272 whole-genome sequences,and 182 downloaded transcriptomes.Morphological assessment from juvenile to adult stages revealed the thickening of hair shafts accompanied by a progressive decline in density,largely attributable to rapid surface expansion of the trunk skin.Transcriptomic comparison between high-and low-CHD individuals identified 572 differentially expressed genes(DEGs).A genome-wide association study detected 25 significant single nucleotide polymorphisms(P<9.07e-8)and mapped 48 annotated genes,with the most prominent association signal located near GJA1 on chr9.15931585-18621011.Literature review and Venn analysis highlighted six genes(GJA1,GPRC5D,CD1D,CD207,TFAM,and CXCL12)with documented roles in skin and hair biology,and three genes(GJA1,GPRC5D,and ATP6V1B1)overlapped with DEGs.Multiple-tissue transcriptomic profiling,western blotting,immunohistochemical staining,and skin single-cell RNA sequencing confirmed that GJA1 and GPRC5D were highly and specifically expressed in skin,particularly within hair follicles.Expression was localized predominantly to follicular stem cells and dermal papilla cells,suggesting a significant role in folliculogenesis and structural maintenance.Cross-validation using four public datasets further demonstrated positive correlations between GJA1 and GPRC5D expression and hair follicle density.The innovative micro-camera application allowed the elucidation of spatiotemporal patterns and genes associated with CHD,thereby addressing a significant knowledge gap in animal hair density.展开更多
The Boer goat is one of the top meat breeds in modern animal husbandry and has attracted widespread attention for its unique growth performance.However,the genetic basis of muscle development in the Boer goat remains ...The Boer goat is one of the top meat breeds in modern animal husbandry and has attracted widespread attention for its unique growth performance.However,the genetic basis of muscle development in the Boer goat remains obscure.In this study,we identified specific structural variants in the Boer goat based on genome-wide selection signals and analyzed the basis of the molecular heredity of related candidate genes in muscle development.A total of9 959 autosomal copy number variations(CNVs) were identified through selection signal analysis in 127 goat genomes.Specifically,we confirmed that the highest signal CNV(HSV) was a chromosomal arrangement containing an approximately 1.11 Mb(CHIR17:60062304-61171840 bp) duplicated fragment inserted in reverse orientation and a 5 362 bp deleted region(CHIR17:60145940-60151302 bp) with overlapping genes(e.g.,ARHGAP10,NR3C2,EDNRA,PRMT9,and TMEM184C).The homozygous duplicated HSV genotype(+/+) was found in 96% of Boer goats but was not detected in Eurasian goats and was only detected in 4% of indigenous African goats.The expression network of three candidate genes(ARHGAP10,NR3C2,and EDNRA)regulating dose transcription was constructed by RNA sequencing.Results indicated that these genes were involved in the proliferation and differentiation of skeletal muscle satellite cells(SMSCs) and their overexpression significantly increased the expression of SAA3.The HSV of the Boer goat contributed to superior skeletal muscle growth via the dose effects of overlapping genes.展开更多
基金supported by the National Key Research and Development Program of China(2022YFD1300202)Collection,Utilization,and Innovation of Animal Resources by Research Institutes and Enterprises of Chongqing(Cqnyncw-kqlhtxm),Chongqing Modern Agricultural Industry Technology System(CQMAITS202413)National Training Program of Innovation and Entrepreneurship for Undergraduates(S202310635040)。
文摘The genetic regulation of hair density in animals remains poorly understood.The Dazu black goat,characterized by its black coarse hair and white skin,provides a unique model for dissecting coarse hair density(CHD).Using high-resolution micro-camera imaging,this study analyzed 905 skin images,33 skin transcriptomes,272 whole-genome sequences,and 182 downloaded transcriptomes.Morphological assessment from juvenile to adult stages revealed the thickening of hair shafts accompanied by a progressive decline in density,largely attributable to rapid surface expansion of the trunk skin.Transcriptomic comparison between high-and low-CHD individuals identified 572 differentially expressed genes(DEGs).A genome-wide association study detected 25 significant single nucleotide polymorphisms(P<9.07e-8)and mapped 48 annotated genes,with the most prominent association signal located near GJA1 on chr9.15931585-18621011.Literature review and Venn analysis highlighted six genes(GJA1,GPRC5D,CD1D,CD207,TFAM,and CXCL12)with documented roles in skin and hair biology,and three genes(GJA1,GPRC5D,and ATP6V1B1)overlapped with DEGs.Multiple-tissue transcriptomic profiling,western blotting,immunohistochemical staining,and skin single-cell RNA sequencing confirmed that GJA1 and GPRC5D were highly and specifically expressed in skin,particularly within hair follicles.Expression was localized predominantly to follicular stem cells and dermal papilla cells,suggesting a significant role in folliculogenesis and structural maintenance.Cross-validation using four public datasets further demonstrated positive correlations between GJA1 and GPRC5D expression and hair follicle density.The innovative micro-camera application allowed the elucidation of spatiotemporal patterns and genes associated with CHD,thereby addressing a significant knowledge gap in animal hair density.
基金supported by the National Natural Science Foundation of China (32272834)。
文摘The Boer goat is one of the top meat breeds in modern animal husbandry and has attracted widespread attention for its unique growth performance.However,the genetic basis of muscle development in the Boer goat remains obscure.In this study,we identified specific structural variants in the Boer goat based on genome-wide selection signals and analyzed the basis of the molecular heredity of related candidate genes in muscle development.A total of9 959 autosomal copy number variations(CNVs) were identified through selection signal analysis in 127 goat genomes.Specifically,we confirmed that the highest signal CNV(HSV) was a chromosomal arrangement containing an approximately 1.11 Mb(CHIR17:60062304-61171840 bp) duplicated fragment inserted in reverse orientation and a 5 362 bp deleted region(CHIR17:60145940-60151302 bp) with overlapping genes(e.g.,ARHGAP10,NR3C2,EDNRA,PRMT9,and TMEM184C).The homozygous duplicated HSV genotype(+/+) was found in 96% of Boer goats but was not detected in Eurasian goats and was only detected in 4% of indigenous African goats.The expression network of three candidate genes(ARHGAP10,NR3C2,and EDNRA)regulating dose transcription was constructed by RNA sequencing.Results indicated that these genes were involved in the proliferation and differentiation of skeletal muscle satellite cells(SMSCs) and their overexpression significantly increased the expression of SAA3.The HSV of the Boer goat contributed to superior skeletal muscle growth via the dose effects of overlapping genes.
