CISTR, embedded in a cis-regulatory element(CRE), which interacts in cis with PTHLH expression and simultaneously in trans with sex-determing region Y-box9(SOX9), may cause brachydactyly type E(BDE) when occurring translocation-mediated genomic disruption.
CISTR:chondrogenesis-associated transcript (HGNC nomenclature)
"cis- and trans-chromosomal chondrogenic regulator transcript", CISTR-ACT, CISTRACT, re52431
CISTR silencing led to PTHLH or SOX9 repressions in humans and rodents, whereas their altered expression coincided with lncRNA dysregulation.
CISTR gene may mediate the HOXB cluster, ETV4, NOG, and SOX9 were all located on chromosome 17 which indicated lncRNA can enhance and specifically influence gene regulation in cis over several Mb.
Knocking down PTHLH and SOX9 significantly increased CISTR expression by 4- and 6.8-fold,respectively.
In the BDE patients, the CISTR occupancy at the PTHLH locus was reduced.
|siRNA 1||GCACAUGACCACAUGGAAATT||UUUCCAUGUGGUCAUGUGCGA |
|siRNA 2||GUUUCUCUCAGCAAAUUCATT||UGAAUUUGCUGAGAGAAACTG |
|siRNA 3||CAAGGACACUGAAAAAGCUTT||AGCUUUUUCAGUGUCCUUGAG |
Labs working on this lncRNA
Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine (MDC), Berlin, Germany.
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 Maass PG, Rump A, Schulz H, Stricker S, Schulze L, Platzer K, et al. A misplaced lncRNA causes brachydactyly in humans[J]. The Journal of clinical investigation. 2012,122(11):3990-4002.