Evolutionary diversification of DYX1C1 transcripts via an HERV-H LTR integration event.
DYX1C1 is a candidate gene for developmental dyslexia and has three alternative pre-mRNA spliced forms in the human genome. One of the transcripts contains an HERV-H LTR that could affect the expression level of DYX1C1. We speculate that the HERV-H LTR integrated into the DYX1C1 locus in the catarrhine lineage after its divergence from the platyrrhine lineage. Reverse transcription-PCR of the HERV-H LTR-related transcript produced four alternative forms from several human tissues. All of alternative forms were also identified in various rhesus macaque tissues. Through sequencing analysis of various primate DNA samples, we found that a part of the HERV-H LTR sequence was duplicated within the DYX1C1 exon 9 only in catarrhines. However, the duplication event did not cause frameshift mutation of the DYX1C1 transcript. Taken together, this HERV-H LTR insertion into DYX1C1 has contributed to transcript diversification of DYX1C1 during primate evolution.
Department of Biological Sciences, College of Natural Sciences, Pusan National University, Republic of Korea.
Yun-Ji
YJ
Kim
Jae-Won
JW
Huh
Dae-Soo
DS
Kim
Kyudong
K
Han
Hwan-Mook
HM
Kim
Heui-Soo
HS
Kim
D000818:Animals; D001483:Base Sequence; D033481:Chromosomes, Mammalian / Q000235:genetics / Q000378:metabolism / Q000821:virology; D019295:Computational Biology; D003598:Cytoskeletal Proteins; D020077:Endogenous Retroviruses / Q000235:genetics*; D019143:Evolution, Molecular; D005091:Exons; D020440:Gene Duplication; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D008253:Macaca mulatta / Q000235:genetics / Q000378:metabolism / Q000821:virology; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D010802:Phylogeny; D051078:Platyrrhini / Q000235:genetics / Q000378:metabolism / Q000821:virology; D012367:RNA, Viral / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D013045:Species Specificity; D020079:Terminal Repeat Sequences; D016662:Virus Integration
D003598:Cytoskeletal Proteins; C478878:DNAAF4 protein, human; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012367:RNA, Viral