کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5589319 | 1569806 | 2017 | 19 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
MUTWAGRAniridiapaired box gene 6dbSNPhsfPax6iOpNMDPSTPTCRT-PCRFBSNCBIINScDNA - cDNADNA complementary to RNA - DNA مکمل RNAsSAT - SSATHuman Splicing Finder - انسداد انسانی انسانOct - اکتبرOptical coherence tomography - توموگرافی انسجام نوریBase pair(s) - جفت پایه (ها)Splice site mutation - جهش سایت SpliceMutant - جهش یافتهpaired domain - دامنه جفت شدهDEL - دلfetal bovine serum - سرم جنین گاوNonsense-mediated decay - فساد ادعایی بی معنیIntraocular pressure - فشار داخل چشمInsert - قرار دادنNational Center for Biotechnology Information - مرکز ملی اطلاعات بیوتکنولوژیMeS - مسwild type - نوع وحشیhomeodomain - هومیوودینreverse transcription-polymerase chain reaction - واکنش زنجیره ای رونویسی-پلیمراز معکوسpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمرازpremature termination codon - کدون از بین بردن زودرس
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Aniridia is a rare, congenital ocular disorder caused by the mutations of the paired box gene-6 (PAX6) (OMIM 607108), which encodes a highly conserved transcriptional regulator. In order to investigate the clinical characterizations and genetic defects of two Chinese families affected with aniridia, we recruited the family members and 200 ethnically matched controls. The entire exons and flanking intronic sequences of the PAX6 gene (NG_008679.1) were analyzed and effects of variants on splicing were assessed in silico and in vitro using exon trapping assay with pET01. The donor site (c.1183Â +Â 1GÂ >Â A) mutation identified in family 1 would result in a complete skipping of exon 12 and cause a frameshift and run-on translation past the normal termination codon, creating an enlarged PAX6 protein with extended COOH-terminal domain. Novel c.1033-1_1033delinsCT mutation was detected in family 2. This mutation provoked both complete exon 12 skipping and partial skipping of exon 12 deleting 7Â bp. This would lead to a frameshift translation and the introduction of pre-mature termination code, which resulted in severely truncated PAX6 protein likely to be degraded. Our study further expands the spectrum of genetic pathology underlying PAX6.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 630, 30 September 2017, Pages 44-48
Journal: Gene - Volume 630, 30 September 2017, Pages 44-48
نویسندگان
Qi Miao, Xiyuan Ping, Xiajing Tang, Li Zhang, Xin Zhang, Yalan Cheng, Xingchao Shentu,