An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs

Raj, Karthik; Ellinwood, N. Matthew; Giger, Urs

doi:10.1038/s41598-020-60121-3

Cited by 11 publications

(14 citation statements)

References 23 publications

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“…ND6 could participated in regulates mitochondrial fatty acid oxidative metabolism, and two rare variants in ND6 were associated with BMI [ 26 , 27 ]. One gene named LRRC66 was involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions [ 28 ]. And other genes were mainly associated with diseases such as Mucopolysaccharidosis IIIB [ 29 ], stress-induced injury [ 30 ], oral-facial-digital syndromes [ 31 ], and breast cancer [ 32 ].…”

Section: Discussionmentioning

confidence: 99%

IRLnc: a novel functional noncoding RNA contributes to intramuscular fat deposition

et al. 2021

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Background Intramuscular fat (IMF) is associated with meat quality and insulin resistance in animals. Research on genetic mechanism of IMF decomposition has positive meaning to pork quality and diseases such as obesity and type 2 diabetes treatment. In this study, an IMF trait segregation population was used to perform RNA sequencing and to analyze the joint or independent effects of genes and long intergenic non-coding RNAs (lincRNAs) on IMF. Results A total of 26 genes including six lincRNA genes show significantly different expression between high- and low-IMF pigs. Interesting, one lincRNA gene, named IMF related lincRNA (IRLnc) not only has a 292-bp conserved region in 100 vertebrates but also has conserved up and down stream genes (< 10 kb) in pig and humans. Real-time quantitative polymerase chain reaction (RT-qPCR) validation study indicated that nuclear receptor subfamily 4 group A member 3 (NR4A3) which located at the downstream of IRLnc has similar expression pattern with IRLnc. RNAi-mediated loss of function screens identified that IRLnc silencing could inhibit both of the RNA and protein expression of NR4A3. And the in-situ hybridization co-expression experiment indicates that IRLnc may directly binding to NR4A3. As the NR4A3 could regulate the catecholamine catabolism, which could affect insulin sensitivity, we inferred that IRLnc influence IMF decomposition by regulating the expression of NR4A3. Conclusions In conclusion, a novel functional noncoding variation named IRLnc has been found contribute to IMF by regulating the expression of NR4A3. These findings suggest novel mechanistic approach for treatment of insulin resistance in human beings and meat quality improvement in animal.

show abstract

Section: Discussionmentioning

confidence: 99%

IRLnc: a novel functional noncoding RNA contributes to intramuscular fat deposition

et al. 2021

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show abstract

“…Mitochondrially Encoded NADH: Ubiquinone oxidoreductase core subunit 6 (ND6) could participated in regulates mitochondrial fatty acid oxidative metabolism, and two rare variants in ND6 were associated with BMI [20,21]. One gene named LRRC66 was are involved in diverse biological processes, including cell adhesion, cellular tra cking, and hormone-receptor interactions [22]. And other genes were mainly associated with diseases such as Mucopolysaccharidosis IIIB [23], stress-induced injury [24], oral-facial-digital syndromes [25], and breast cancer [26].…”

Section: Discussionmentioning

confidence: 99%

IRLnc: A novel functional noncoding RNA contributes to intramuscular fat deposition

Wang

Zhou

Zhang

et al. 2021

Preprint

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BackgroundIntramuscular fat (IMF) is associated with meat quality and insulin resistance in animals. Research on genetic mechanism of IMF decomposition has positive meaning to pork quality and diseases such as obesity and type 2 diabetes treatment. In this study, an IMF trait segregation population was used to perform RNA sequencing and to analyze the joint or independent effects of genes and long intergenic non-coding RNAs (lincRNAs) on IMF.ResultsA total of 26 genes including six lincRNA genes show significantly different expression between high- and low-IMF pigs. Interesting, one lincRNA gene, named IMF related lincRNA (IRLnc) not only has a 292-bp conserved region in 100 vertebrates but also has conserved up and down stream genes (<10 kb) in pig and humans. Real-time quantitative polymerase chain reaction (RT-qPCR) validation study indicated that nuclear receptor subfamily 4 group A member 3 (NR4A3) which located at the downstream of IRLnc has similar expression pattern with IRLnc. RNAi-mediated loss of function screens identified that IRLnc silencing could inhibit both of the RNA and protein expression of NR4A3. And the in-situ hybridization co-expression experiment indicates that IRLnc may directly binding to NR4A3. As the NR4A3 could regulate the catecholamine catabolism, which could affect insulin sensitivity, we inferred that IRLnc influence IMF decomposition by regulating the expression of NR4A3.ConclusionsIn conclusion, a novel functional noncoding variation named IRLnc has been found contribute to IMF by regulating the expression of NR4A3. These findings suggest novel mechanistic approach for treatment of insulin resistance in human beings and meat quality improvement in animal.

show abstract

Section: Discussionmentioning

confidence: 99%

IRLnc: A novel functional noncoding RNA contributes to intramuscular fat deposition

Wang¹,

Zhou

Zhang

et al. 2020

Preprint

View full text Add to dashboard Cite

Background Intramuscular fat (IMF) is associated with meat quality and insulin resistance in animals. Research on genetic mechanism of IMF decomposition has positive meaning to pork quality and diseases such as obesity and type 2 diabetes treatment. In this study, an IMF trait segregation population was used to perform RNA sequencing and to analyze the joint or independent effects of genes and long intergenic non-coding RNAs (lincRNAs) on IMF. Results A total of 26 genes including 6 LincRNA genes show significantly different expression between high- and low-IMF pigs. Interesting, one lincRNA gene, named IMF related LincRNA (IRLnc) not only has a 292-nt conserved region in 100 vertebrates but also has conserved up and down stream genes (<10 kb) in pig and humans. Real-time quantitative polymerase chain reaction (RT-qPCR) validation study indicated that nuclear receptor subfamily 4 group A member 3 (NR4A3) which located at the downstream of IRLnc has similar expression pattern with IRLnc. RNAi-mediated loss of function screens identified that IRLnc silencing could inhibit both of the RNA and protein expression of NR4A3. And the in-situ hybridization co-expression experiment indicates that IRLnc may directly binding to NR4A3. As the NR4A3 could regulate the catecholamine catabolism, which could affect insulin sensitivity, we inferred that IRLnc influence IMF decomposition by regulating the expression of NR4A3.Conclusions In conclusion, a novel functional noncoding variation named IRLnc have been found contribute to IMF by regulating the expression of NR4A3. These finding suggest novel mechanistic approach for treatment of insulin resistance in human beings and meat quality improvement in animal.

show abstract

An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs

Cited by 11 publications

References 23 publications

IRLnc: a novel functional noncoding RNA contributes to intramuscular fat deposition

IRLnc: a novel functional noncoding RNA contributes to intramuscular fat deposition

IRLnc: A novel functional noncoding RNA contributes to intramuscular fat deposition

IRLnc: A novel functional noncoding RNA contributes to intramuscular fat deposition

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