Cloning of a cDNA Encoding Chitotriosidase, a Human Chitinase Produced by Macrophages

Boot, Rolf G.; Renkema, G. Herma; Strijland, Anneke; Zonneveld, Anton Jan van; Aerts, Johannes M. F. G.

doi:10.1074/jbc.270.44.26252

Cited by 366 publications

(307 citation statements)

References 25 publications

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“…In vitro, human chitotriosidase is capable of degrading chitincontaining pathogens. 26,30 Some authors have suggested that, on the basis of in vitro chitinase activity, it could play a role in microbicidal activity against complex pathogens, such as the filarial parasite whose microfilarial sheath contains chitin. 35 Recently, a mouse chitinaselike molecule (YM-1) has been shown to be highly expressed by filarial exposed alternatively activated macrophages (JE Allen, personal communication).…”

Section: Discussionmentioning

confidence: 99%

“…Each of the genes is a critical component of host defense microbicidal pathway, such as two components of the oxygen dependent NADPH-oxidase, p22-phox (CYBA) 22,23 and p67-phox (NCF2), myeloperoxidase (MPO), 24 Nramp-1 (NRAMP), 25 or a phagocyte specific chitotriosidase (CHIT1). 26,27 In addition, we studied the C-type collectin, mannose-binding lectin (MBL2). 28,29 In our preliminary investigation of genetic factors that influence expression of human lymphatic filariasis, we analyzed the distribution of genetic polymorphisms of the candidate genes against three major clinical outcomes following exposure to filarial parasites in a W. bancrofti-endemic area of South India.…”

Section: Introductionmentioning

confidence: 99%

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Genetic polymorphisms in molecules of innate immunity and susceptibility to infection with Wuchereria bancrofti in South India

et al. 2001

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A pilot study was conducted to determine if host genetic factors influence susceptibility and outcomes in human filariasis.Using the candidate gene approach, a well-characterized population in South India was studied using common polymorphisms in six genes (CHIT1, MPO, NRAMP, CYBA, NCF2, and MBL2) . A total of 216 individuals from South India were genotyped; 67 normal (N), 63 asymptomatic microfilaria positive (MF+), 50 with chronic lymphatic dysfunction/elephantiasis (CP), and 36 tropical pulmonary eosinophilia (TPE). An association was observed between the HH variant CHIT1 genotype, which correlates with decreased activity and levels of chitotriosidase and susceptibility to filarial infection (MF+ and CP; P = 0.013). The heterozygosity of CHIT1 gene was over-represented in the normal individuals (P = 0.034). The XX genotype of the promoter region in MBL2 was associated with susceptibility to filariasis (P = 0.0093). Since analysis for MBL-sufficient vs insufficient haplotypes was not informative, it is possible the

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic polymorphisms in molecules of innate immunity and susceptibility to infection with Wuchereria bancrofti in South India

et al. 2001

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“…3 Human Chit exhibits a remarkable sequence homology among other chitinase from plants, bacteria, fungi, nematodes and insects. 4,5 In humans, Chit is synthesized by activated macrophages. Chit levels have been proposed as a biochemical marker of macrophage activation in several lysosomal diseases, 6 especially in Gaucher diseases or beta-glucocerebrosidase deficiency, 7 where uncleaved membrane glycolipids are stored in the macrophage cells.…”

Section: Introductionmentioning

confidence: 99%

“…10 In addition, the 50 kDa Chit form is synthesized by neutrophilic granulocyte progenitors and stored in their granules. 4 The Chit gene is localized in chromosome 1q31-q32. 11 The gene consists of 12 exons and spans about 20 kb of genomic DNA.…”

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confidence: 99%

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A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions

Malaguarnera

Simporé²,

Prodi³

et al. 2003

Genes Immun

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Type 1 Gaucher Disease

Balwani¹,

Fuerstman²,

Kornreich³

et al. 2010

Arch Intern Med

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Background Type 1 Gaucher Disease (GD), an autosomal recessive lysosomal storage disease, is most prevalent in the Ashkenazi Jewish (AJ) population. Experts have suggested that up to two-thirds of AJ homozygotes for the common mutation (N370S) are asymptomatic throughout life and never come to medical attention. However, there are no systematic studies of N370S homozygotes to support this presumption. Methods Prenatal carrier screening of 8069 AJ adults for six common GD mutations was performed. GD manifestations in 37 previously unrecognized homozygotes were assessed by clinical, laboratory and imaging studies. Results Among the 8069 AJ screenees, 524 GD carriers (1:15.4) and nine previously unrecognized GD homozygotes (1:897) were identified, consistent with that expected (1:949, p=1.0). Six of these homozygotes, and 31 AJ GD homozygotes identified by other prenatal carrier screening programs in the New York metropolitan area were evaluated (aged 17-40 years). Of these, 84% were N370S homozygotes, others being heteroallelic for N370S and V394L, L444P or R496H. Notably, 65% reported no GD medical complaints. However, 49% had anemia and/or thrombocytopenia. Among the 29 who had imaging studies, 97% had mild to moderate splenomegaly and 55% had hepatomegaly; skeletal imaging revealed marrow infiltration (100%), Erlenmeyer flask deformities (43%), lucencies (22%) and bone infarcts (14%). DEXA studies of 25 homozygotes found 60% osteopenic or osteoporotic. Conclusions Contrary to previous discussions, almost all asymptomatic GD homozygotes serendipitously diagnosed by prenatal carrier screening had disease manifestations and should be followed for disease progression and institution of appropriate medical management.

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Cloning of a cDNA Encoding Chitotriosidase, a Human Chitinase Produced by Macrophages

Cited by 366 publications

References 25 publications

Genetic polymorphisms in molecules of innate immunity and susceptibility to infection with Wuchereria bancrofti in South India

Genetic polymorphisms in molecules of innate immunity and susceptibility to infection with Wuchereria bancrofti in South India

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions

Type 1 Gaucher Disease

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