Cloning and sequence analysis of chitin synthase gene fragments of Demodex mites

Zhao, Yongtao; Wang, Zhenghang; Xu, Yu; Xu, Jianhua; Liu, Wenyan; Wei, Meng; Wang, Chu-ying

doi:10.1631/jzus.b1200155

Cited by 7 publications

(4 citation statements)

References 32 publications

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“…Sequencing results were analyzed using Chromas 1.62 and compared with sequences from NCBI GenBank (PITX2A: NM_153427.1 and FOXC1: NM_001453.2). In addition, PCR products harboring this mutation were further analyzed by clone sequencing, using the method described previously (Zhao et al, 2012). Direct sequencing was also used to screen the mutation identified in PITX2 on 100 ethnically-matched controls to exclude the possibility of single nucleotide polymorphism (SNP).…”

Section: Mutation Analysismentioning

confidence: 99%

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome

Yin

Fang

Jin

et al. 2014

J. Zhejiang Univ. Sci. B

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Abstract:Objective: Axenfeld-Rieger syndrome (ARS) is phenotypically and genetically heterogeneous. In this study, we identified the underlying genetic defect in a Chinese family with ARS. Methods: A detailed family history and clinical data were recorded. The ocular phenotype was documented using slit-lamp photography and systemic anomalies were also documented where available. The genomic DNA was extracted from peripheral blood leukocytes. All coding exons and intron-exon junctions of paired-like homeodomain transcription factor 2 (PITX2) gene and the forkhead box C1 (FOXC1) gene were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Variations detected in exon 5 of PITX2 were further evaluated with cloning sequencing. The exon 5 of PITX2 was also sequenced in 100 healthy controls, unrelated to the family, for comparison. Structural models of the wild type and mutant homeodomain of PITX2 were investigated by SWISS-MODEL. Results: Affected individuals exhibited variable ocular phenotypes, whereas the systemic anomalies were similar. After direct sequencing and cloning sequencing, a heterozygous deletion/insertion mutation c.198_201delinsTTTCT (p.M66Ifs*133) was revealed in exon 5 of PITX2. This mutation co-segregated with all affected individuals in the family and was not found either in unaffected family members or in 100 unrelated controls. Conclusions: We detected a novel frameshift mutation p.M66Ifs*133 in PITX2 in a Chinese family with ARS. Although PITX2 mutations and polymorphisms have been reported from various ethnic groups, we report for the first time the identification of a novel deletion/insertion mutation that causes frameshift mutation in the homeodomain of PITX2 protein.

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Section: Mutation Analysismentioning

confidence: 99%

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome

Yin

Fang

Jin

et al. 2014

J. Zhejiang Univ. Sci. B

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“…We observed mites, often multiple, in essentially all HF and sebaceous glands of back skin in type 2 immunodeficient mice (Figure 1D). To assess the Demodex burden, we developed a PCR assay for the highly conserved Demodex chitin synthase (CHS) gene (Zhao et al, 2012). Affected type 2-deficient mice were PCR positive, whereas separately maintained, microscopically negative wild-type (WT) mice were PCR negative (Figure 1E).…”

Section: Resultsmentioning

confidence: 99%

Innate type 2 immunity controls hair follicle commensalism by Demodex mites

Ricardo-González¹,

Kotas²,

O’Leary³

et al. 2022

Immunity

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“…In this regard, a growing body of evidence implicates chitin, the major polysaccharide of acarian exoskeletons, including those of Demodex spp. [ 54 ]. Chitin initiates a T H 2 response by mobilizing the same cells and eliciting the same cytokines as IgE [ 55 , 56 ].…”

Section: Ige In Atopic Dermatitismentioning

confidence: 99%

The Acari Hypothesis, III: Atopic Dermatitis

Retzinger

2022

Pathogens

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Atopic dermatitis is a chronic relapsing dermatopathology involving IgE against allergenic materials present on mammalian epithelial surfaces. Allergens are as diverse as pet danders, and polypeptides expressed by microbes of the mammalian microbiome, e.g., Malassezia spp. The Acari Hypothesis posits that the mammalian innate immune system utilizes pathogen-bound acarian immune effectors to protect against the vectorial threat posed by mites and ticks. Per The Hypothesis, IgE-mediated allergic disease is a specious consequence of the pairing of acarian gastrointestinal materials, e.g., allergenic foodstuffs, with acarian innate immune effectors that have interspecies operability. In keeping with The Hypothesis, the IgE profile of atopic patients should include both anti-acarian antibodies and specious antibodies responsible for specific allergy. Further, the profile should inform on the diet and/or environment of the acarian vector. In this regard, the prevalence of Demodex and Dermatophagoides on the skin of persons suffering from atopic dermatitis is increased. Importantly, the diets of these mites correspond well with the allergens of affected patients. In this report, roles for these specific acarians in the pathogenesis of atopic dermatitis are proposed and elaborated.

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Cloning and sequence analysis of chitin synthase gene fragments of Demodex mites

Cited by 7 publications

References 32 publications

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome

Innate type 2 immunity controls hair follicle commensalism by Demodex mites

The Acari Hypothesis, III: Atopic Dermatitis

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