Difference between revisions of "NONHSAT028496"
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In the BDE patients, the ''CISTR'' occupancy at the PTHLH locus was reduced. | In the BDE patients, the ''CISTR'' occupancy at the PTHLH locus was reduced. | ||
| + | ===Disease=== | ||
| + | brachydactyly <ref name="ref1" /> | ||
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| | AGCUUUUUCAGUGUCCUUGAG <ref name="ref1" /> | | | AGCUUUUUCAGUGUCCUUGAG <ref name="ref1" /> | ||
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==Labs working on this lncRNA== | ==Labs working on this lncRNA== | ||
Latest revision as of 09:32, 27 March 2018
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.
Contents
Annotated Information
Name
CISTR:chondrogenesis-associated transcript (HGNC nomenclature)
"cis- and trans-chromosomal chondrogenic regulator transcript", CISTR-ACT, CISTRACT, re52431[1]
Function
CISTR silencing led to PTHLH or SOX9 repressions in humans and rodents, whereas their altered expression coincided with lncRNA dysregulation.[1]
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[1].
Regulation
Knocking down PTHLH and SOX9 significantly increased CISTR expression by 4- and 6.8-fold,respectively.[1]
Expression
In the BDE patients, the CISTR occupancy at the PTHLH locus was reduced.
Disease
brachydactyly [1]
| siRNA | sense | antisense |
|---|---|---|
| siRNA 1 | GCACAUGACCACAUGGAAATT | UUUCCAUGUGGUCAUGUGCGA [1] |
| siRNA 2 | GUUUCUCUCAGCAAAUUCATT | UGAAUUUGCUGAGAGAAACTG [1] |
| siRNA 3 | CAAGGACACUGAAAAAGCUTT | AGCUUUUUCAGUGUCCUUGAG [1] |
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.
References
Basic Information
| Transcript ID |
NONHSAT028496 |
| Source |
NONCODE4.0 |
| Same with |
, |
| Classification |
intergenic |
| Length |
772 nt |
| Genomic location |
chr12-:54144081..54145660 |
| Exon number |
2 |
| Exons |
54144081..54144749,54145558..54145660 |
| Genome context |
|
| Sequence |
000001 gggaggaaaa gaggcgggag agagaCCCTA AAAAGCAAGC TAGACTCTCC AGCCGGCCGC TCTGGTGTGG GGAGGGAGCG 000080
000081 TCATCTCAAG GACACTGAAA AAGCTGTTTG CCGTTTTGCT GTTTGCCTCC TTGTCACGAC CTCAGCGACG GCAGATGGAG 000160 000161 CCAGTGGAGG GAGAGAGACA GACGGCAATG CTTGGGTAGC CAGGGCTCCC TGCCGGCCCC ACTCCTCCTG CAGACACGAG 000240 000241 CACGCACACA CACACGCGCG CAAAACACAC ACGCTGCCCT TCGCCACACG TAGCCAAGTA AAATACACAA AAAGCAACTG 000320 000321 AGATACCATT CGCACATGAC CACATGGAAA CACACAAATG AACAAACGCA TTCAGGCATA GCCACATGCC AGTCACACAG 000400 000401 ATGGATAGAC AAGAGCCTGG GGTACAAAGC CACATGGCAC AAAGCCACCT GGATGTATAT GCCCCTacac acgcacacag 000480 000481 aaaaaaacat gcaaacttaa gtacacacct atccagacaa gtgtgagtgc acacacacac acactcacac acTCTACCTG 000560 000561 ACACGTTAGT GCATCCCCAT TGGGCCCCAG TTTCTCTCAG CAAATTCAGA TCACCCAGCC TGACTTCAAA ACCTGCCCCC 000640 000641 TTCCATTCCC CTTCATGCTG GTTCCTGAAT CCAGCTCGTT GCTCCAGGCT AGCAAAGCTG TCCACAGCCT CATTTGTGGT 000720 000721 TTGCTCACCT GCCTCAGCAC CATCAGCCAG AGGTACTCCT GCTCTTCTCC TA |
