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Başlık: STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16
Yazarlar: Türkgenç, Burcu
Şanlıdağ, Burçin
Eker, Amber
Giray, Aslı
Kütük, Özgür
Yakıcıer, Cengiz
Tolun, Aslıhan
Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.
Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.
0000-0002-9802-0880
Temel, Şehime Gülsün
AAG-8385-2021
6507885442
Anahtar kelimeler: Genetics & heredity
3 ' UTR
Cerebellar atrophy
Polyadenylation
SCAR16
STUB1
Messenger-RNA polyadenylation
Beta-globin gene
Thalassemia
Mutation
Cleavage
Sequence
Site
Yayın Tarihi: 4-Tem-2018
Yayıncı: Wiley
Atıf: Türkgenç, B. vd. (2018). ''STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16''. Human Mutation, 39(10), 1344-1348.
Özet: We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a known disease. In a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.*240T>C variant in the 3'UTR of STUB1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (SCAR16). In other genes, such an alteration of the evolutionarily highly conserved polyadenylation signal from AATAAA to AACAAA is known to highly impair polyadenylation. In contrast, RNA sequencing and quantification revealed that neither polyadenylation nor stability of STUB1 mRNA is affected. In silico analysis predicted that the secondary structure of the mRNA is altered. We propose that this change underlies the extremely low amounts of the encoded protein in patient leukocytes.
URI: https://doi.org/10.1002/humu.23601
https://onlinelibrary.wiley.com/doi/10.1002/humu.23601
http://hdl.handle.net/11452/30371
ISSN: 1059-7794
1098-1004
Koleksiyonlarda Görünür:PubMed
Scopus
Web of Science

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