OMIA 000185-9913 : Chediak-Higashi syndrome in Bos taurus

In other species: domestic cat , Arctic fox , killer whale , American mink

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: 1999

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.

Mapping: 28q12

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Kunieda et al. (1999) identified a missense mutation (A to G) in the bovine LYST gene, producing an amino-acid substitution of histidine to arginine (H2015R) in the resultant peptide.

Breed: Japanese Black.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LYST lysosomal trafficking regulator Bos taurus 28 NC_037355.1 (8554343..8378030) LYST Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Japanese Black Chediak-Higashi syndrome LYST missense UMD3.1 28 g.8508619A>G c.6044A>G p.H2015R 1999 10594238 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)

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 Abdeen, A., Sonoda, H., Kobayashi, I., Kitahara, G., Ikeda, M. :
A New Method for Rapid Detection of the Mutant Allele for Chediak-Higashi Syndrome in Japanese Black Cattle. J Vet Med Sci :, 2013. Pubmed reference: 23615171.
2007 Honda, N., Ohnishi, K., Fujishiro, T., Ikeda, M., Ito, K. :
Alteration of release and role of adenosine diphosphate and thromboxane A2 during collagen-induced aggregation of platelets from cattle with Chediak-Higashi syndrome. Am J Vet Res 68:1399-406, 2007. Pubmed reference: 18052747. DOI: 10.2460/ajvr.68.12.1399.
2002 Shiraishi, M., Kawashima, S., Moroi, M., Shin, Y., Morita, T., Horii, Y., Ikeda, M., Ito, K. :
A defect in collagen receptor-Ca2+ signaling system in platelets from cattle with Chediak-Higashi syndrome Thrombosis & Haemostasis 87:334-341, 2002. Pubmed reference: 11858496.
Shiraishi, M., Ogawa, H., Ikeda, M., Kawashima, S., Ito, K. :
Platelet dysfunction in Chediak-Higashi syndrome-affected cattle Journal of Veterinary Medical Science 64:751-760, 2002. Pubmed reference: 12399597.
2000 Kunieda, T., Ide, H., Nakagiri, M., Yoneda, K., Konfortov, B., Ogawa, H. :
Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28 Animal Genetics 31:87-90, 2000. Pubmed reference: 10782205.
Yamakuchi, H., Agaba, M., Hirano, T., Hara, K., Todoroki, J., Mizoshita, K., Kubota, C., Tabara, N., Sugimoto, Y. :
Chediak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu) Animal Genetics 31:13-19, 2000. Pubmed reference: 10690356.
1999 Kunieda, T., Nakagiri, M., Takami, M., Ide, H., Ogawa, H. :
Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle Mammalian Genome 10:1146-1149, 1999. Pubmed reference: 10594238.
1998 Shiraishi, M., Ikeda, M., Ogawa, H., Tu, C.H., Ito, K. :
Impaired cytosolic calcium mobilization and aggregation in response to collagen in platelets from Japanese black cattle with Chediak-Higashi syndrome American Journal of Veterinary Research 59:744-749, 1998. Pubmed reference: 9622745.
1997 Ogawa, H., Tu, C.H., Kagamizono, H., Soki, K., Inoue, Y., Akatsuka, H., Nagata, S., Wada, T., Ikeya, M., Makimura, S., Uchida, K., Yamaguchi, R., Otsuka, H. :
Clinical, morphologic, and biochemical characteristics of chediak-higashi-syndrome in fifty-six japanese black cattle American Journal of Veterinary Research 58:1221-1226, 1997. Pubmed reference: 9361882.
1996 Suzuki, T., Goryo, M., Inanami, O., Uetsuki, J.Y., Saito, S.Y., Kaketa, K., Oshima, T., Shimizu, H., Okabe, S., Tanaka, T., Kamata, R., Shuto, F., Sato, I., Tachikawa, E., Sakaguchi, M., Kobayashi, H., Okada, K. :
Inhibition of collagen-induced platelet aggregation in japanese black cattle with inherited platelet disorder, chediak-higashi syndrome Journal of Veterinary Medical Science 58:647-654, 1996. Pubmed reference: 8844601.
Tu, C.H., Takahashi, Y., Kaseda, Y., Uchida, K., Yamaguchi, R., Suzuki, K., Ogawa, H., Otsuka, H. :
Inheritance of Chediak-Higashi syndrome in Japanese Black cattle Journal of Veterinary Medical Science 58:501-504, 1996. Pubmed reference: 8811616.
1993 Scott, D., Tizard, I. :
Primary Immunodeficiencies of Food Animals Veterinary Clinics of North America - Food Animal Practice 9:65-75, 1993. Pubmed reference: 8457931.
1990 Menard, M., Meyers, K.M., Prieur, D.J. :
Primary and Secondary Lysosomes in Megakaryocytes and Platelets from Cattle with the Chediak-Higashi Syndrome Thrombosis and Haemostasis 64:156-160, 1990. Pubmed reference: 2274921.
Meyers, K., Seachord, C. :
Identification of Dense Granule Specific Membrane Proteins in Bovine Platelets That Are Absent in the Chediak-Higashi Syndrome Thrombosis and Haemostasis 64:319-325, 1990. Pubmed reference: 2270540.
1988 Ayers, J.R., Leipold, H.W., Padgett, G.A. :
Lesions in Brangus cattle with Chediak-Higashi syndrome. Vet Pathol 25:432-6, 1988. Pubmed reference: 3212888.
Ménard, M., Meyers, K.M. :
Storage pool deficiency in cattle with the Chédiak-Higashi syndrome results from an absence of dense granule precursors in their megakaryocytes. Blood 72:1726-34, 1988. Pubmed reference: 3179446.
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 Burns, G.L., Meyers, K.M., Prieur, D.J. :
Secondary amyloidosis in a bull with Chediak-Higashi syndrome. Can J Comp Med 48:113-4, 1984. Pubmed reference: 6713250.
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.
1983 Meyers, K.M., Seachord, C.L., Benson, K., Fukami, M., Holmsen, H. :
Serotonin accumulation in granules of storage pool-deficient platelets of Chediak-Higashi cattle. Am J Physiol 245:H150-8, 1983. Pubmed reference: 6869556.
Umemura, T., Katsuta, O., Goryo, M., Hayashi, T., Itakura, C. :
Pathological findings in a young Japanese Black cattle affected with Chediak-Higashi syndrome. Nihon Juigaku Zasshi 45:241-6, 1983. Pubmed reference: 6632459.
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.E., Borchard, R.E., Padgett, G.A. :
Storage pool deficiency in platelets from Chediak-Higashi cattle. Am J Physiol 237:R239-48, 1979. Pubmed reference: 474797.
1976 Bell, T.G., Meyers, K.M., Prieur, D.J., Fauci, A.S., Wolff, S.M., Padgett, G.A. :
Decreased nucleotide and serotonin storage associated with defective function in Chediak-Higashi syndrome cattle and human platelets Blood 48:175-184, 1976. Pubmed reference: 949545.
Prieur, D.J., Holland, J.M., Bell, T.G., Young, D.M. :
Ultrastructural and morphometric studies of platelets from cattle with the Chediak-Higashi syndrome Laboratory Investigation 35:197-204, 1976. Pubmed reference: 957606.
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.
1974 Renshaw, H.W., Davis, W.C., Fudenberg, H.H., Padgett, G.A. :
Leukocyte dysfunction in the bovine homologue of the Chediak-Higashi syndrome of humans. Infect Immun 10:928-37, 1974. Pubmed reference: 4426711.
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.
1968 Padgett, G.A. :
The Chediak-Higashi syndrome Advances in Veterinary Science 12:239-284, 1968.
1965 Gorham, J.R. :
Chediak-Higashi syndrome in mink, man and cattle American Fur Breeder 38:18-19 ; 33, 1965.
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 Mohammad Shariflou on 07 Nov 2006
  • Changed by Frank Nicholas on 17 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 15 Sep 2012