Genomic and in silico analyses of CRBN gene and thalidomide embryopathy in humans

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• 作者：Fernanda Sales Luiz Vianna^a ; ^b ; ^c ; ^d ; ¹ ; ^{fslvianna@gmail.com} ; Thayne Woycinck Kowalski^a ; ^c ; ¹ ; Luciana Tovo-Rodrigues^c ; ^e ; Alice Tagliani-Ribeiro^c ; Bibiane Armiliato Godoy^c ; Lucas Rosa Fraga^a ; ^c ; Maria Teresa Vieira Sanseverino^a ; ^b ; ^c ; ^f ; Mara Helena Hutz^c ; Laví ; nia Schuler-Faccini^a ; ^b ; ^c
• 关键词：ABPST ; Brazilian Association of Thalidomide Victims ; CRBN ; Cereblon ; CRL4 ; cullin RING-like ; CtBP ; C-terminal binding protein ; CUL4A ; cullin-4A ; DDB1 ; DNA damage-binding protein 1 ; EIE ; exon-identity element ; ESE ; exonic splicing enhancer ; ESR ; exonic splicing regulatory ; ESS ; exonic splicing silencer ; GATA1 ; GATA-binding protein 1 ; GATA2 ; GATA-binding protein 2 ; GATA3 ; GATA-binding protein 3 ; HSF ; human splicing finder ; IIE ; intron-identity element ; IKZF1 ; Ikaros family zinc finger 1 ; IKZF3 ; Ik
• 刊名：Reproductive Toxicology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：66
• 期：Complete
• 页码：99-106
• 全文大小：1244 K
• 卷排序：66

文摘

We sequenced CRBN-thalidomide binding region and analyzed the variants in silico. Eight variants, seven in intron and one in 3′UTR, were identified in the sample. Subjects with TE have rare variants in higher frequency than non-affected subjects. A variant could exert a risk to neurological anomalies independent of thalidomide. Absence of exonic variants confirms Cereblon protein is highly conserved in mammals.