OMIA 000185-452646 : Chediak-Higashi syndrome in Neovison vison

In other species: domestic cat , killer whale , cattle , Arctic fox

Possibly relevant human trait(s) and/or gene(s) (MIM number): 214500

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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 - no genomic information (-..-) LYST Ensembl

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Chediak-Higashi syndrome LYST deletion, small (<=20) c.9468delC 2013 22762706

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 Research 15:251-257, 2002. Pubmed reference: 12100490.
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 Proceedings of the National Academy of Sciences of the United States of America 93:5905-5909, 1996. Pubmed reference: 8650191.
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 Somatic Cell and Molecular Genetics 19:459-468, 1993. Pubmed reference: 8291023.
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.
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 Journal of the American Veterinary Medical Association 175:587-590, 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.
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.
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 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.
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.
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.
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.
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.
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.

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  • Created by Frank Nicholas on 17 Jul 2012
  • Changed by Frank Nicholas on 17 Jul 2012
  • Changed by Frank Nicholas on 27 Aug 2013
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