Identification of the murine beige gene by YAC complementation and positional cloning

Perou, Charles M.; Moore, Karen J.; Nagle, Deborah L.; Misumi, Donald J.; Woolf, Elizabeth A.; McGrail, Sonja H.; Holmgren, Lisa; Brody, Theodore M.; Dussault, Barry J.; Monroe, Cheryl A.; Duyk, Geoffrey M.; Pryor, Robert J.; Li, Liangtao; Justice, Monica J.; Kaplan, Jerry

doi:10.1038/ng0796-303

Cited by 180 publications

(124 citation statements)

References 24 publications

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“…Non-specialized CHS cells also present enlarged lysosomes, which fail to fuse efficiently with the cell surface in response to membrane lesions (Huynh et al, 2004). The gene mutated in patients with CHS encodes a protein named lysosomal trafficking regulator or LYST (previously known as CHS1 in human and beige in mouse) (Barbosa et al, 1996;Nagle et al, 1996;Perou et al, 1996). The exact role of LYST in the biology of lysosomes is still unclear.…”

Section: Introductionmentioning

confidence: 99%

A LYST/beige homolog is involved in biogenesis ofDictyosteliumsecretory lysosomes

Charette

Cosson

2007

Journal of Cell Science

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Chediak-Higashi syndrome (CHS) is characterized at the cellular level by a defect in the ability of cells to secrete lysosomes. However, the precise step affected in the secretion process is unclear. We characterized Dictyostelium discoideum cells containing a mutation in lvsB, the homolog of the human gene (LYST) involved in CHS. As observed in mammalian cells, secretion of lysosome-derived compartments was affected in lvsB mutant cells. This defect was mirrored by a decrease in the number of fusion-competent post-lysosomal compartments, which in Dictyostelium can be clearly distinguished from lysosomes. In addition, the transfer of endocytosed particles from lysosomes to post lysosomes was strongly diminished in lvsB mutant cells compared with the wild type. These results suggest that LvsB is primarily involved in transport from lysosomes to post lysosomes, and thus plays a critical role in the maturation of lysosomes into fusion-competent post-lysosomal compartments

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Section: Introductionmentioning

confidence: 99%

A LYST/beige homolog is involved in biogenesis ofDictyosteliumsecretory lysosomes

Charette

Cosson

2007

Journal of Cell Science

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“…2B). In contrast, using beige mice, in which NKT cells are functional but NK cells are defective (23)(24)(25), we observed no defect in antigen clearance following immunization during 28 days following immunization (Fig. 2C).…”

Section: Dna Vaccine Antigen Expression Damping Is Dependent On Nktmentioning

confidence: 51%

“…Mice-6 -8-week female C57BL/6, CD1d KO (CD1.1/CD1.2 KO on BALB/c background), BALB/c, and beige mice (C57BL/ 6-Lyst bg ) (23)(24)(25) were purchased from the Jackson Laboratory. J␣18 KO mice (iNKT KO), mice missing the V␣14-J␣18 NKT cells, were a gift from Dr. Mark E. Exley (Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA).…”

Section: Methodsmentioning

confidence: 99%

Non-classical Natural Killer T Cells Modulate Plasmid DNA Vaccine Antigen Expression and Vaccine-elicited Immune Responses by MCP-1 Secretion after Interaction with a β2-Microglobulin-independent CD1d

Geiben-Lynn

Greenland

Frimpong-Boateng

et al. 2009

Journal of Biological Chemistry

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The magnitude and durability of a plasmid DNA vaccine-induced immune response is shaped by immune effector molecules at the site of vaccination. In the present study, we show that antigen expression is modified by type II NKT cells, after interaction with a ␤2-microglobulin-independent Plasmid DNA vaccine-induced T cell memory responses are potentiated by innate immune responses that are generated during the first days after vaccination (1). At that time Natural Killer (NK) 2 and Natural Killer T (NKT) cells are attracted to the site of vaccine administration (2). Investigation into the function of both cell types following vaccination is important because in diverse biologic settings the release of NK or NKT cell-associated cytokines and chemokines has been shown to modulate adaptive T cell and humoral immune responses. Responding quickly, these cells have the capacity to produce cytokines and chemokines that help B cells produce antibodies, induce macrophages to develop enhanced microbicidal activity, and recruit T cells, neutrophils, eosinophils, and basophils to sites of infection and inflammation (3-9).NK and NKT cells have distinct and complementary functions. NK cells can recognize and eliminate tumors and virusinfected cells (3-5). NKT cells participate in immune processes associated with self-tolerance, including tumor rejection (10, 11), suppression of anti-tumor responses (12), down-regulation of autoimmune inflammatory diseases (13), immune privilege (14), tolerance to allografts and xenografts (15-17), fetal-maternal tolerance (18), protection against graft-versus-host disease (19), and protection against pathogens such as Cryptococcus (20) and hepatitis B virus (21).NK and NKT cells recognize target cells using distinct receptors. NK cell effector function is regulated by a balance between opposing signals delivered by inhibitory and activating receptors. A number of surface molecules expressed by NK cells, including CD2, CD16, CD69, and DNAM-1 have been implicated in the triggering of NK cell-mediated cytotoxicity. Additionally, the activating counterparts of the MHC-specific receptor p50 and the CD94/NKG2C molecules trigger NK-mediated cytotoxicity against MHC class I-expressing target cells. MHC class I negative targets are lysed after recognition by the cytotoxicity receptors NKp46, NKp44,.The majority of NKT cells express the NK lineage-specific receptor NK1.1 (CD161) and secrete cytokines upon recognition of CD1d. CD1d can present lipids and glycolipids as well as peptides to NKT cells. Invariant NKT (iNKT) cells or type I NKT cells make use of a restricted TCR repertoire, using an invariant TCR V␣14-J␣281 rearrangement and a limited set of TCR V␤ segments, suggesting that they recognize a limited set of CD1d-associated ligands (8, 9). A second group of CD1d-reactive NKT cells, referred to as type II NKT cells, use a diverse TCR repertoire that allows them to recognize a diversity of ligands presented on CD1d (8).Because plasmid DNA antigen clearance has been shown to be ␤2m-independent (22),...

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“…The CHS is caused by mutations in the CHS1 gene, a human orthologue of the lysosomal trafficking regulator (Lyst) gene [1,9,15]. In rats (Rattus norvegicus), the DA/Ham-Lyst bg strain has been utilized as the sole beige mutant [5][6][7][10][11][12][13][14].…”

Section: Introductionmentioning

confidence: 99%

A New Beige Mutant Rat ACI/N-Lystbg-Kyo.

et al. 2003

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Abstract:A new beige-like coat color mutant was identified in the ACI/N rat colony. Other features characteristic of beige mutants, such as giant granule cells in various tissues, and prolonged bleeding time were also observed. The genetic complementation test, mating beige-like mutant with the authentic beige mutant rat, DA/Ham-Lyst bg , revealed that the mutant gene is allelic to Lyst bg . The new beige mutant allele was denoted Lyst bg-Kyo . Molecular genetic analysis revealed deletion of exons 28, 29, and 30 of the Lyst gene owing to recombination between L1 elements in the mutant rats. Although the deletion was similar to that identified in DA/Ham-Lyst bg rats, the putative deletion break points in L1 elements were different in the two strains. Further characterization of the ACI/N-Lyst bg-Kyo rats should make it useful as an animal model for human Chediak-Higashi syndrome.

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Identification of the murine beige gene by YAC complementation and positional cloning

Cited by 180 publications

References 24 publications

A LYST/beige homolog is involved in biogenesis ofDictyosteliumsecretory lysosomes

A LYST/beige homolog is involved in biogenesis ofDictyosteliumsecretory lysosomes

Non-classical Natural Killer T Cells Modulate Plasmid DNA Vaccine Antigen Expression and Vaccine-elicited Immune Responses by MCP-1 Secretion after Interaction with a β2-Microglobulin-independent CD1d

A New Beige Mutant Rat ACI/N-Lystbg-Kyo.

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