Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1

Autor: Jiao Chen, Junhui Sun, Xuefang Li, Mengmeng Du

Publikováno v: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-7 (2022)

Abstract Background Hereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disorder caused by disease-causing variants in the fumarylacetoacetate hydrolase (FAH) gene encoding the last enzyme of the tyrosine catabolic pathway. Here

Externí odkaz: https://doaj.org/article/5a3546440f25472799b978ce5550f8f6

Bidirectional promoter activity from expression cassettes can drive off-target repression of neighboring gene translation

Autor: Emily Nicole Powers, Charlene Chan, Ella Doron-Mandel, Lidia Llacsahuanga Allcca, Jenny Kim Kim, Marko Jovanovic, Gloria Ann Brar

Publikováno v: eLife, Vol 11 (2022)

Targeted selection-based genome-editing approaches have enabled many fundamental discoveries and are used routinely with high precision. We found, however, that replacement of DBP1 with a common selection cassette in budding yeast led to reduced expr

Externí odkaz: https://doaj.org/article/b49a305637df4f8ebc5d04dbf3a11760

Evolution of Yin and Yang isoforms of a chromatin remodeling subunit precedes the creation of two genes

Autor: Wen Xu, Lijiang Long, Yuehui Zhao, Lewis Stevens, Irene Felipe, Javier Munoz, Ronald E Ellis, Patrick T McGrath

Publikováno v: eLife, Vol 8 (2019)

Genes can encode multiple isoforms, broadening their functions and providing a molecular substrate to evolve phenotypic diversity. Evolution of isoform function is a potential route to adapt to new environments. Here we show that de novo, beneficial

Externí odkaz: https://doaj.org/article/5d9d57b73a374789ba05e2132e587ffd

Marek's Disease Virus Virulence Genes Encode Circular RNAs

Autor: Alexis S. Chasseur, Gabrielle Trozzi, Céline Istasse, Astrid Petit, Perrine Rasschaert, Caroline Denesvre, Benedikt B. Kaufer, Luca D. Bertzbach, Benoît Muylkens, Damien Coupeau

Publikováno v: Chasseur, A S, Trozzi, G, Istasse, C, Petit, A, Rasschaert, P, Denesvre, C, Kaufer, B B, Bertzbach, L D, Muylkens, B & Coupeau, D 2022, ' Marek’s Disease Virus Virulence Genes Encode Circular RNAs ', Journal of Virology, vol. 96, no. 9 . https://doi.org/10.1128/jvi.00321-22

Circular RNAs (circRNAs) are a recently rediscovered class of functional noncoding RNAs that are involved in gene regulation and cancer development. Next-generation sequencing approaches identified circRNA fragments and sequences underlying circulari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a10d81f36858872230ef6dd736b1e3
https://pubmed.ncbi.nlm.nih.gov/35412345

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