TY  - JOUR
A1  - Hamanaka, Kohei
A1  - Yamauchi, Daisuke
A1  - Koshimizu, Eriko
A1  - Watase, Kei
A1  - Mogushi, Kaoru
A1  - Ishikawa, Kinya
A1  - Mizusawa, Hidehiro
A1  - Tsuchida, Naomi
A1  - Uchiyama, Yuri
A1  - Fujita, Atsushi
A1  - Misawa, Kazuharu
A1  - Mizuguchi, Takeshi
A1  - Miyatake, Satoko
A1  - Matsumoto, Naomichi
T1  - Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans
Y1  - 2023/03/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 435 
EP  - 447 
DO  - 10.1101/gr.277335.122 
VL  - 33 
IS  - 3 
UR  - http://genome.cshlp.org/content/33/3/435.abstract 
N2  - Tandem repeats (TRs) are one of the largest sources of polymorphism, and their length is associated with gene regulation. Although previous studies reported several tandem repeats regulating gene splicing in cis (spl-TRs), no large-scale study has been conducted. In this study, we established a genome-wide catalog of 9537 spl-TRs with a total of 58,290 significant TR–splicing associations across 49 tissues (false discovery rate 5%) by using Genotype-Tissue expression (GTex) Project data. Regression models explaining splicing variation by using spl-TRs and other flanking variants suggest that at least some of the spl-TRs directly modulate splicing. In our catalog, two spl-TRs are known loci for repeat expansion diseases, spinocerebellar ataxia 6 (SCA6) and 12 (SCA12). Splicing alterations by these spl-TRs were compatible with those observed in SCA6 and SCA12. Thus, our comprehensive spl-TR catalog may help elucidate the pathomechanism of genetic diseases. 
ER  -