C57BL/6JCya-Yars1em1flox/Cya
Common Name:
Yars1-flox
Product ID:
S-CKO-18520
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Yars1-flox
Strain ID
CKOCMP-107271-Yars1-B6J-VB
Gene Name
Product ID
S-CKO-18520
Gene Alias
Yars
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
4
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Yars1em1flox/Cya mice (Catalog S-CKO-18520) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000106054
NCBI RefSeq
NM_134151
Target Region
Exon 2~3
Size of Effective Region
~1.0 kb
Detailed Document
Overview of Gene Research
Yars1, encoding tyrosyl tRNA synthetase (TyrRS), is responsible for coupling tyrosine to its specific tRNA, a crucial step in protein synthesis [1,3]. Besides its role in aminoacylation, TyrRS has two additional functional domains (N-Terminal TyrRSMini and C-terminal EMAP-II-like domain) conferring cytokine-like functions [1]. It is involved in pathways such as aminoacyl tRNA biosynthesis, and its proper function is essential for normal biological processes.
Pathogenic variants in Yars1 have been associated with diverse disorders. The recurrent homozygous missense variant c.1099C > T;p.(Arg367Trp) causes a multisystem disorder with developmental delay, microcephaly, and more. This variant destabilizes the cytokine-like C-terminal domain but doesn't affect the catalytic domain for enzymatic coupling [1]. A missense variant p.Asp308Tyr in the anticodon binding domain was linked to proximal-predominant motor neuropathy and showed a loss-of-function effect in yeast complementation assays [2]. Also, a patient with compound heterozygous Yars1 variants presented with dysmorphic facies and multisystemic symptoms, expanding the understanding of Yars1-associated autosomal recessive disorders [3].
In conclusion, Yars1 is essential for tyrosine-tRNA coupling and has additional cytokine-like functions. Research on Yars1-associated genetic variants in patients helps uncover its role in various disorders, including neurodevelopmental and motor neuropathies. Understanding Yars1 can potentially provide insights into disease mechanisms and therapeutic strategies for these conditions.
References:
1. Averdunk, Luisa, Sticht, Heinrich, Surowy, Harald, Alkuraya, Fowzan S, Wieczorek, Dagmar. 2021. The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. In Journal of molecular medicine (Berlin, Germany), 99, 1755-1768. doi:10.1007/s00109-021-02124-9. https://pubmed.ncbi.nlm.nih.gov/34536092/
2. Forrest, Megan E, Meyer, Alayne P, Laureano Figueroa, Stephanie M, Antonellis, Anthony. 2022. A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy. In Cold Spring Harbor molecular case studies, 8, . doi:10.1101/mcs.a006246. https://pubmed.ncbi.nlm.nih.gov/36307205/
3. Kuan, Janene, Hansen, Ashleigh, Wang, Hua. 2023. Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY. In Frontiers in pediatrics, 11, 1282253. doi:10.3389/fped.2023.1282253. https://pubmed.ncbi.nlm.nih.gov/38125821/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen