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1.
Electron. j. biotechnol ; 28: 113-119, July. 2017. tab, ilus, graf
Artigo em Inglês | LILACS | ID: biblio-1015986

RESUMO

Background: C4ST-1 catalyzes the transfer of sulfate groups in the sulfonation of chondroitin during chondroitin sulfate synthesis. Chondroitin sulfate consists of numerous copies of negatively charged sulfonic acid groups that participate in the nucleation process of biomineralization. In the present study, we obtained two CHST11 genes (PmCHST11a and PmCHST11b) which encoded the C4ST-1 and explored the functions of these genes in the synthesis of chondroitin sulfate and in the formation of the nacreous layer of shells. Results: Both PmCHST11a and PmCHST11b had a sulfotransferase-2 domain, a signal peptide and a transmembrane domain. These properties indicated that these genes localize in the Golgi apparatus. Real-time PCR revealed that both PmCHST11a and PmCHST11b were highly expressed in the central zone of the mantle tissue. Inhibiting PmCHST11a and PmCHST11b via RNA interference significantly decreased the expression levels of these genes in the central zone of the mantle tissue and the concentration of chondroitin sulfate in extrapallial fluid. Moreover, shell nacre crystallized irregularly with a rough surface after RNA interference. Conclusions: This study indicated that PmCHST11a and PmCHST11b are involved in the nacre formation of Pinctada fucata martensii through participating in the synthesis of chondroitin sulfate.


Assuntos
Sulfotransferases/metabolismo , Pinctada , Nácar/biossíntese , Proteoglicanas de Sulfatos de Condroitina/biossíntese , Sulfotransferases/genética , Técnicas de Amplificação de Ácido Nucleico/métodos , Interferência de RNA , Reação em Cadeia da Polimerase em Tempo Real , Biomineralização
2.
Korean Journal of Ophthalmology ; : 454-458, 2013.
Artigo em Inglês | WPRIM | ID: wpr-205012

RESUMO

To report a novel mutation within the CHST6 gene, as well as describe light and electron microscopic features of a case of macular corneal dystrophy. A 59-year old woman with macular corneal dystrophy in both eyes who had decreased visual acuity underwent penetrating keratoplasty. Further studies including light and electron microscopy, as well as DNA analysis were performed. Light microscopy of the cornea revealed glycosaminoglycan deposits in the keratocytes and endothelial cells, as well as extracellularly within the stroma. All samples stained positively with alcian blue, colloidal iron, and periodic acid-Schiff. Electron microscopy showed keratocytes distended by membrane-bound intracytoplasmic vacuoles containing electron-dense fibrillogranular material. These vacuoles were present in the endothelial cells and between stromal lamellae. Some of the vacuoles contained dense osmophilic whorls. A novel homozygous mutation (c.613 C>T [p.Arg205Trp]) was identified within the whole coding region of CHST6. A novel CHST6 mutation was detected in a Korean macular corneal dystrophy patient.


Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Distrofias Hereditárias da Córnea/diagnóstico , Ceratócitos da Córnea/ultraestrutura , DNA/genética , Análise Mutacional de DNA , Microscopia Eletrônica , Mutação de Sentido Incorreto , Linhagem , Reação em Cadeia da Polimerase , República da Coreia , Sulfotransferases/genética
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