PMID- 31919397
OWN - NLM
STAT- MEDLINE
DCOM- 20201110
LR  - 20240327
IS  - 2045-2322 (Electronic)
IS  - 2045-2322 (Linking)
VI  - 10
IP  - 1
DP  - 2020 Jan 9
TI  - Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi 
      syndrome caused by a large duplication in LYST.
PG  - 64
LID - 10.1038/s41598-019-56896-9 [doi]
LID - 64
AB  - 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.
FAU - Buckley, R M
AU  - Buckley RM
AD  - Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, 
      University of Missouri, Columbia, MO, 65211, USA.
FAU - Grahn, R A
AU  - Grahn RA
AD  - Department of Population Health and Reproduction, School of Veterinary Medicine, 
      University of California - Davis, Davis, CA, USA.
AD  - Veterinary Genetics Laboratory, University of California - Davis, School of 
      Veterinary Medicine, Davis, CA, 95616, USA.
FAU - Gandolfi, B
AU  - Gandolfi B
AD  - Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, 
      University of Missouri, Columbia, MO, 65211, USA.
AD  - Department of Population Health and Reproduction, School of Veterinary Medicine, 
      University of California - Davis, Davis, CA, USA.
FAU - Herrick, J R
AU  - Herrick JR
AD  - Omaha's Henry Doorly Zoo and Aquarium, Omaha, Nebraska, 68107, USA.
AD  - Center for Conservation and Research of Endangered Wildlife, Cincinnati Zoo and 
      Botanical Garden, Cincinnati, Ohio, 45220, USA.
FAU - Kittleson, M D
AU  - Kittleson MD
AD  - Department of Medicine and Epidemiology, School of Veterinary Medicine, 
      University of California - Davis, Davis, CA, 95616, USA.
FAU - Bateman, H L
AU  - Bateman HL
AD  - Center for Conservation and Research of Endangered Wildlife, Cincinnati Zoo and 
      Botanical Garden, Cincinnati, Ohio, 45220, USA.
FAU - Newsom, J
AU  - Newsom J
AD  - Center for Conservation and Research of Endangered Wildlife, Cincinnati Zoo and 
      Botanical Garden, Cincinnati, Ohio, 45220, USA.
FAU - Swanson, W F
AU  - Swanson WF
AD  - Center for Conservation and Research of Endangered Wildlife, Cincinnati Zoo and 
      Botanical Garden, Cincinnati, Ohio, 45220, USA.
FAU - Prieur, D J
AU  - Prieur DJ
AD  - Department of Veterinary Microbiology and Pathology, College of Veterinary 
      Medicine, Washington State University, Pullman, WA, 99164-7040, USA.
FAU - Lyons, L A
AU  - Lyons LA
AD  - Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, 
      University of Missouri, Columbia, MO, 65211, USA. lyonsla@missouri.edu.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20200109
PL  - England
TA  - Sci Rep
JT  - Scientific reports
JID - 101563288
RN  - 0 (Vesicular Transport Proteins)
SB  - IM
MH  - Alleles
MH  - Animals
MH  - Cats
MH  - Cell Line
MH  - Chediak-Higashi Syndrome/genetics/*pathology
MH  - Disease Models, Animal
MH  - Exons
MH  - Female
MH  - Fibroblasts/cytology/metabolism
MH  - Genotype
MH  - Male
MH  - Pedigree
MH  - Polymorphism, Genetic
MH  - Vesicular Transport Proteins/*genetics/metabolism
PMC - PMC6952417
COIS- The authors declare no competing interests.
EDAT- 2020/01/11 06:00
MHDA- 2020/11/11 06:00
PMCR- 2020/01/09
CRDT- 2020/01/11 06:00
PHST- 2019/08/27 00:00 [received]
PHST- 2019/12/11 00:00 [accepted]
PHST- 2020/01/11 06:00 [entrez]
PHST- 2020/01/11 06:00 [pubmed]
PHST- 2020/11/11 06:00 [medline]
PHST- 2020/01/09 00:00 [pmc-release]
AID - 10.1038/s41598-019-56896-9 [pii]
AID - 56896 [pii]
AID - 10.1038/s41598-019-56896-9 [doi]
PST - epublish
SO  - Sci Rep. 2020 Jan 9;10(1):64. doi: 10.1038/s41598-019-56896-9.