OMIA:000185-9913 : Chediak-Higashi syndrome in Bos taurus (taurine cattle) |
In other species: domestic cat , killer whale , American mink , 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: 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, Japan (Cattle) (VBO_0004987).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| LYST | lysosomal trafficking regulator | Bos taurus | 28 | NC_037355.1 (8554283..8378030) | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 183 | Japanese Black, Japan (Cattle) | Chediak-Higashi syndrome | LYST | missense | Naturally occurring variant | ARS-UCD1.3 | 28 | NC_037355.1:g.8464077T>C | NM_174020.2:c.6044A>G | NP_776445.1:p.(H2015R) | rs481318527 | 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) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000185-9913: 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 | 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 75:1237-9, 2013. Pubmed reference: 23615171. DOI: 10.1292/jvms.13-0063. | |
| 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., 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. | |
| 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. | |
| 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 Vet Clin North Am Food Anim Pract 9:65-75, 1993. Pubmed reference: 8457931. DOI: 10.1016/s0749-0720(15)30672-1. | |
| 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. DOI: 10.3109/02713688409000828. | |
| 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 J Am Vet Med Assoc 175:587-90, 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. DOI: 10.1093/genetics/49.3.505. |
Edit History
- 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