OMIA:000185-452646 : Chediak-Higashi syndrome in Neovison vison (American mink) |
In other species: domestic cat , killer whale , taurine cattle , Arctic fox
Categories: Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 214500 (trait) , 606897 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2013
Cross-species summary: The mouse homologue of this disorder is the beige coat-colour mutation, which is a mutation in the gene for lysosomal trafficking regulator, Lyst. As its name suggests, this gene is involved in lysosomal functioning - lysosomes being the digestive system of the cell. Thus Chediak-Higashi syndrome is a lysosomal disorder.
Species-specific description: Perou et al. (1996) isolated a 500-kb YAC clone containing the mouse beige gene, and showed that it complements a cell line from beige mice. This transformed mouse cell line then complemented the Chediak-Higashi phenotype when introduced into fibroblasts from affected mink.
Mapping: Using two microsatellites derived from a contig that includes the most likely comparative functional candidate gene (LYST), Anistoroaei et al. (2013) linkage-mapped the microsatellites, and hence LYST, in American mink to the centromeric region of chromosome NVI2. These authors also reported that the "physical locations [of the microsatellies] also were confirmed on the basis of sequence homology aided by the Zoo-FISH data" (Hameister et al., Chromosome Research 1997, 5, 5–11; Graphodatsky et al. 2000 Cytogenetics and Cell Genetics 90, 275–8)
Molecular basis: From sequencing of the most likely comparative functional candidate gene, Anistoroaei et al. (2013) reported the causal mutation to be "a base deletion (c.9468delC) in exon 40 of LYST, which causes a frameshift and virtually terminates the LYST product prematurely (p.Leu3156Phefs*37)".
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| LYST | Neovison vison | 2 | NC_058092.1 (151227101..151415542) | LYST | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 518 | Chediak-Higashi syndrome | LYST | deletion, small (<=20) | Naturally occurring variant | c.9468delC | 2013 | 22762706 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2013). OMIA:000185-452646: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2013 | Anistoroaei, R., Krogh, A.K., Christensen, K. : |
| A frameshift mutation in the LYST gene is responsible for the Aleutian color and the associated Chédiak-Higashi syndrome in American mink. Anim Genet 44:178-83, 2013. Pubmed reference: 22762706. DOI: 10.1111/j.1365-2052.2012.02391.x. | |
| 2002 | Shiflett, S.L., Kaplan, J., Ward, D.M. : |
| Chediak-Higashi syndrome: A rare disorder of lysosomes and lysosome related organelles Pigment Cell Res 15:251-7, 2002. Pubmed reference: 12100490. DOI: 10.1034/j.1600-0749.2002.02038.x. | |
| 1996 | Perou, C.M., Justice, M.J., Pryor, R.J., Kaplan, J. : |
| Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes Proc Natl Acad Sci U S A 93:5905-9, 1996. Pubmed reference: 8650191. DOI: 10.1073/pnas.93.12.5905. | |
| 1993 | Perou, C.M., Kaplan, J. : |
| Complementation analysis of Chediak-Higashi Syndrome - The same gene may be responsible for the defect in all patients and species. Somat Cell Mol Genet 19:459-68, 1993. Pubmed reference: 8291023. DOI: 10.1007/BF01233251. | |
| 1987 | Penner, J.D., Prieur, D.J. : |
| A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome. Am J Med Genet 28:445-54, 1987. Pubmed reference: 3425619. DOI: 10.1002/ajmg.1320280222. | |
| 1985 | van Eerdenburg, F.J., Bouw, J. : |
| [Chédiak-Higashi syndrome]. Tijdschr Diergeneeskd 110:391-9, 1985. Pubmed reference: 4012747. | |
| 1984 | Collier, L.L., Prieur, D.J., King, E.J. : |
| Ocular melanin pigmentation anomalies in cats, cattle, mink, and mice with Chediak-Higashi syndrome: histologic observations. Curr Eye Res 3:1241-51, 1984. Pubmed reference: 6488853. DOI: 10.3109/02713688409000828. | |
| 1982 | Meyers, K.M., Hopkins, G., Holmsen, H., Benson, K., Prieur, D.J. : |
| Ultrastructure of resting and activated storage pool deficient platelets from animals with the Chédiak-Higashi syndrome Am J Pathol 106:364-77, 1982. Pubmed reference: 7199822. | |
| 1980 | Collier, L.L. : |
| Investigations of Chediak-Higashi syndrome in four animal species (mink, cattle, cat, mouse) Dissertation Abstracts International 40 B:4161-, 1980. | |
| 1979 | Collier, L.L., Bryan, G.M., Prieur, D.J. : |
| Ocular manifestations of the Chediak Higashi syndrome in four species of animals J Am Vet Med Assoc 175:587-90, 1979. Pubmed reference: 511755. | |
| Meyers, K.M., Holmsen, H., Seachord, C.L., Hopkins, G., Gorham, J. : | |
| Characterization of platelets from normal mink and mink with the Chediak-Higashi syndrome. Am J Hematol 7:137-46, 1979. Pubmed reference: 539591. DOI: 10.1002/ajh.2830070206. | |
| 1976 | Lavine, W.S., Page, R.C., Padgett, G.A. : |
| Host response in chronic periodontal disease. V. The dental and periodontal status of mink and mice affected by Chediak-Higashi syndrome. J Periodontol 47:621-35, 1976. Pubmed reference: 1068269. DOI: 10.1902/jop.1976.47.11.621. | |
| Marsh, R.F., Sipe, J.C., Morse, S.S., Hanson, R.P. : | |
| Transmissible mink encephalopathy. Reduced spongiform degeneration in aged mink of the Chediak-Higashi genotype. Lab Invest 34:381-6, 1976. Pubmed reference: 131218. | |
| 1975 | Gallin, J.I., Klimerman, J.A., Padgett, G.A., Wolff, S.M. : |
| Defective mononuclear leukocyte chemotaxis in the Chediak-Higashi syndrome of humans, mink, and cattle. Blood 45:863-70, 1975. Pubmed reference: 1092386. | |
| 1972 | Asano, M., Kawahara, I. : |
| [Electron microscopic observations on Chediak-Higashi's granular anomaly in blood cells of mink]. Nihon Ketsueki Gakkai Zasshi 35:146-55, 1972. Pubmed reference: 4676723. | |
| Clark, R.A., Kimball, H.R., Padgett, G.A. : | |
| Granulocyte chemotaxis in the Chediak-Higashi syndrome of mink. Blood 39:644-9, 1972. Pubmed reference: 4553941. | |
| Hadlow, W.J., Race, R.E., Jackson, T.A. : | |
| Lymphoreticular proliferative disease in mink homozygous for the Aleutian gene. J Natl Cancer Inst 49:1455-8, 1972. Pubmed reference: 4678791. | |
| 1971 | Davis, W.C., Spicer, S.S., Greene, W.B., Padgett, G.A. : |
| Ultrastructure of cells in bone marrow and peripheral blood of normal mink and mink with the homologue of the Chediak-Higashi trait of humans. II. Cytoplasmic granules in eosinophils, basophils, mononuclear cells and platelets. Am J Pathol 63:411-32, 1971. Pubmed reference: 5104068. | |
| Davis, W.C., Spicer, S.S., Greene, W.B., Padgett, G.A. : | |
| Ultrastructure of bone marrow granulocytes in normal mink and mink with the homolog of the Chediak-Higashi trait of humans. I. Origin of the abnormal granules present in the neutrophils of mink with the C-HS trait. Lab Invest 24:303-17, 1971. Pubmed reference: 5104888. | |
| Hirano, A., Zimmerman, H.M., Levine, S., Padgett, G.A. : | |
| Cytoplasmic inclusions in Chediak-Higashi and Wobbler mink. An electron microscopic study of the nervous system. J Neuropathol Exp Neurol 30:470-87, 1971. Pubmed reference: 4327884. DOI: 10.1097/00005072-197107000-00011. | |
| Sung, J.H., Okada, K. : | |
| Neuropathological changes in mink with Chediak-Higashi disease. A light and electron microscopic study. J Neuropathol Exp Neurol 30:33-62, 1971. Pubmed reference: 5542540. DOI: 10.1097/00005072-197101000-00005. | |
| 1969 | Blume, R.S., Padgett, G.A., Wolff, S.M., Bennett, J.M. : |
| Giant neutrophil granules in the Chediak-Higashi syndrome of man, mink, cattle and mice. Can J Comp Med 33:271-4, 1969. Pubmed reference: 4187790. | |
| Hagen, K.W. : | |
| Growth of Trypanosoma cruzi in Chediak-Higashi mink cells. J Parasitol 55:971-2, 1969. Pubmed reference: 5362383. | |
| 1968 | Padgett, G.A. : |
| The Chediak-Higashi syndrome Advances in Veterinary Science 12:239-284, 1968. | |
| 1967 | Gordon, D.A., Franklin, A.E., Karstad, L. : |
| Viral plasmacytosis (Aleutian disease) of mink resembling human collagen disease. Can Med Assoc J 96:1245-51, 1967. Pubmed reference: 5336835. | |
| Larson, W.G. : | |
| The Chediak-Higashi syndrome and Aleutian mink. Arch Dermatol 96:330-1, 1967. Pubmed reference: 5341553. DOI: 10.1001/archderm.96.3.330. | |
| Padgett, GA., Reiquam, CW., Gorham, JR., Henson, JB., O'Mary, CC. : | |
| Comparative studies of the Chediak-Higashi syndrome. Am J Pathol 51:553-71, 1967. Pubmed reference: 6057596. | |
| 1966 | Levine, S., Padgett, G.A., Leader, R.W. : |
| Allergic encephalomyelitis in Chediak-Higashi mink. Encephalomyelitis, ganglionitis, and neuritis. Arch Pathol 82:234-41, 1966. Pubmed reference: 5944442. | |
| 1965 | Gorham, J.R. : |
| Chediak-Higashi syndrome in mink, man and cattle American Fur Breeder 38:18-19 ; 33, 1965. | |
| Lutzner, M.A., Tierney, J.H., Benditt, E.P. : | |
| Giant granules and widespread cytoplasmic inclusions in a genetic syndrome of Aleutian mink. An electron microscopic study. Lab Invest 14:2063-79, 1965. Pubmed reference: 5853555. | |
| 1964 | Padgett, G.A., Leader, R.W., Gorham, J.R., O'Mary, C.C. : |
| The familial occurrence of the Chediak-Higashi syndrome in mink and cattle Genetics 49:505-12, 1964. Pubmed reference: 14135410. DOI: 10.1093/genetics/49.3.505. |
Edit History
- Created by Frank Nicholas on 17 Jul 2012
- Changed by Frank Nicholas on 17 Jul 2012
- Changed by Frank Nicholas on 27 Aug 2013
- Changed by Frank Nicholas on 08 Nov 2013