RT Journal
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
JF Genome Research 
JO Genome Research 
YR 2023 
FD March 01 
VO 33 
IS 3 
SP 435 
OP 447 
DO 10.1101/gr.277335.122 
UL http://genome.cshlp.org/content/33/3/435.abstract 
AB 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.