ArticleScientific reports2020
Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- The late arrival of domestic cats in China via the Silk Road after 3,500 years of human-leopard cat commensalism.Cell genomics · 2026Article
- Chedíak-Higashi Syndrome: Hair-to-toe spectrum.Seminars in pediatric neurology · 2024Review
- Genomic Analysis of the Endangered Fonni's Dog Breed: A Comparison of Genomic and Phenotypic Evaluation Scores.Animals : an open access journal from MDPI · 2023Article
- Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.NPJ genomic medicine · 2021Article
- Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array.PloS one · 2021Article
- Precision medicine in cats-The right biomedical model may not be the mouse!PLoS genetics · 2020Article
- Werewolf, There Wolf: Variants inGenes · 2020Article
- A Deletion inGenes · 2020Article
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chediak-Higashi Syndrome (CHS) is a well-characterized, autosomal recessively inherited lysosomal disease caused by mutations in lysosomal trafficking regulator (LYST). The feline model for CHS was originally maintained for ~20 years. However, the colonies were disbanded and the CHS cat model was lost to the research community before the causative mutation was identified. To resurrect the cat model, semen was collected and cryopreserved from a lone, fertile, CHS carrier male. Using cryopreserved semen, laparoscopic oviductal artificial insemination was performed on three queens, two queens produced 11 viable kittens. To identify the causative mutation, a fibroblast cell line, derived from an affected cat from the original colony, was whole genome sequenced. Visual inspection of the sequence data identified a candidate causal variant as a ~20 kb tandem duplication within LYST, spanning exons 30 through to 38 (NM_001290242.1:c.8347-2422_9548 + 1749dup). PCR genotyping of the produced offspring demonstrated three individuals inherited the mutant allele from the CHS carrier male. This study demonstrated the successful use of cryopreservation and assisted reproduction to maintain and resurrect biomedical models and has defined the variant causing Chediak-Higashi syndrome in the domestic cat.
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