NA02075
DNA from Fibroblast
Description:
CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED
LYSOSOMAL TRAFFICKING REGULATOR; LYST
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
LYST |
| Chromosomal Location |
1q42.3 |
| Allelic Variant 1 |
606897.0003; CHEDIAK-HIGASHI SYNDROME; CHS |
| Identified Mutation |
c.118dup, p.Ala40Glyfs*24 |
| Remarks |
Photophobia; no nystagmus; cytoplasmic inclusions in WBC; partial oculocutaneous albinism; fibroblasts show normal post UV irradiation cell survival and DNA repair. One allele has a heterozygous single base duplication in LYST gene (c.118dup, p.Ala40Glyfs*24). Mutation in another allele is unknown. |
| Oh S, Niwa A, Nagahashi A, Asaka I, Nakahata T, Saito MK, iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells Pediatrics international : official journal of the Japan Pediatric Society64:e15390 2022 |
| PubMed ID: 36259166 |
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| Fujita H, Umezuki Y, Imamura K, Ishikawa D, Uchimura S, Nara A, Yoshimori T, Hayashizaki Y, Kawai J, Ishidoh K, Tanaka Y, Himeno M, Mammalian class E Vps proteins, SBP1 and mVps2/CHMP2A, interact with and regulate the function of an AAA-ATPase SKD1/Vps4B. J Cell Sci117(Pt 14):2997-3009 2004 |
| PubMed ID: 15173323 |
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| Huynh C, Roth D, Ward DM, Kaplan J, Andrews NW, Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells. Proc Natl Acad Sci U S A101(48):16795-800 2004 |
| PubMed ID: 15557559 |
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| Ward DM, Shiflett SL, Huynh D, Vaughn MB, Prestwich G, Kaplan J, Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes. Traffic4(6):403-15 2003 |
| PubMed ID: 12753649 |
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| Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ, Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome Nature genetics14:307-11 1996 |
| PubMed ID: 8896560 |
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| Perou CM, Justice MJ, Pryor RJ, Kaplan J, Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes. Proc Natl Acad Sci U S A93:5905-9 1996 |
| PubMed ID: 8650191 |
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| Burkhardt JK, Wiebel FA, Hester S, Argon Y, The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes. J Exp Med178:1845-56 1993 |
| PubMed ID: 7902407 |
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| Penner JD, Prieur DJ, A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome. Am J Med Genet28:445-54 1987 |
| PubMed ID: 3425619 |
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| Penner JD, Prieur DJ, Interspecific genetic complementation analysis with fibroblasts from humans and four species of animals with Chediak-Higashi syndrome. Am J Med Genet28:455-70 1987 |
| PubMed ID: 3322007 |
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