DSCR8
Contents
Annotated Information
Name
DSCR8：Down syndrome critical region 8 (non-protein coding)
MMA-1a：malignant melanoma-associated 1;MMA-1b:a splice variant of MMA-1a[1]
Characteristics
MMA-1a is localized on chromosome 21q22.2, adjacent to the genes DSCR4 and KCNJ15.[1]
The MMA-1a gene consists of 4 exons, separated by 3 introns, of which intron 2 is extremely large. A further homology search displayed another human EST, identical to MMA-1a, but missing exon 3, was named MMA-1b. The MMA-1a and MMA-1b transcripts contain an open reading frame (ORF) coding for proteins of 91 and 37 amino acids, respectively.[1]
Function
The integration or lack of exon 3 in MMA-1a or MMA-1b transcripts might influence the structure of the putative proteins such that it regulates their involvement in carcinogenesis.[1]
Disease
Expression
MMA-1a and MMA-1b are predominantly expressed in the testis; although expression is less extensive, MMA-1b seems also considerably expressed in the placenta. In some other normal tissues, MMA-1a and/or MMA-1b expression is very low. Generally, in both tumor lesions and tumor cell lines, when MMA-1a is expressed, expression of MMA-1b could also be detected. On the other hand, MMA-1b is expressed more frequently and could be detected without expression of MMA-1a, especially after semi-nested PCR.[1]
Sequence
>NR_026838.1 Homo sapiens Down syndrome critical region 8 (non-protein coding) (DSCR8), transcript variant 4, long non-coding RNA
000081 CACTCGTTTC TGTAAACATG GGTGGCAAAA AGAGAAGATG GAGCTGCCAT TTAGAACATG CCTAATCCCA GCTTCATCTT 000160
000161 GCTGAGCAAA AATGAAGGAG CCTGGACCCA ACTTTGTTAC TGTGAGAAAG GGTCTTCATT CATTCAAGAT GGCATTTGTT 000240
000241 AAGCACCTAC TGTGAGTAGA TGATCTCCTG TCAAAGACAG TTAACAAATC CTCGGAATAT TGCTTCATGT ACAGTTATTG 000320
000321 GAGATGAGTA ACTTACATTC TCTTAATTGT AATGGTTCCT TGGAAAGTCA TCGTGGAAAA TGAAGGCTGG CTCATACATT 000400
000401 TTCCCAGACA GGAATTTGGC TGCCAACAGG GAATTCTAAA CAACTAAAAA CTCCAGATGA TGAATGCACA ACATAATGAT 000480
000481 GGTTAAATTA AAAAAAAAAA AGAGCACGGC TGGAGTGCAG TGGTTCAATC ACGGATCACT GCAGCCTCCA CCTCCCAGTT 000560
000561 CAAGAAATTC TCATGTCTCA GCCTCCTGAG CAGCTAGGAT TACAGACAAA CCTTGGAAAT CAAGAAAGTT CTGGAATGAT 000640
000641 GAAGCTGTTC ATGCCAAGAC CGAAAGTGCT GGCCCAGTAT GAGTCCATTC AGTTCATGCC GTGACAATTT TCTTGGAACT 000720
000721 CCTTTTTATT GTTAGTTCTC ACTTGTTTCC ATATTTAGTG AATGTACATT TAATTGCAAA GCTGTCATTA ATAAAAATTC 000800
000801 TTATAGTACC TCAAAAAAAA AAAAA
Labs working on this lncRNA
- Department of Pathology, University Medical Centre St. Radboud, Nijmegen, The Netherlands; Roche Diagnostics GmbH, Pharma Research, Penzberg, Germany[1]
- Division of Medical Genetics, University of Geneva Medical School, 1211 Geneva, Switzerland; Ludwig Institute for Cancer Research, Rua Professor Antonio Prudente, 109, 01509-010, São Paulo, SP, Brazil; Swiss Institute of Bioinformatics (SIB), 1066 Epalinges, Switzerland; Office of Information Technology, Ludwig Institute for Cancer Research, 1066 Epalinges, Switzerland; Swiss Institute for Experimental Cancer Research (ISREC), 1066 Epalinges, Switzerland[2]
- CNRS URA 1335, Faculte ´ de Me ´ decine Necker-Enfants Malades, 156 rue de Vaugirard, 75730 Paris, France; †Max-Planck Institut fu ¨ r Molekulare Genetik, Ihnestrasse 73, D-14195 Berlin, Germany; ‡Abt Molekulare Genomanalyse, Deutsches Krebsforschungzentrum, Im Neuenheimer Feld 506, 69120 Heidelberg, Germany; and §Medical Genetics, Cantonal Hospital and University of Geneva Medical School, 9 avenue de Champel, 1211 Geneva 4, Switzerland[3]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 de Wit NJ, Weidle UH, Ruiter DJ, van Muijen GN. Expression profiling of MMA-1a and splice variant MMA-1b: new cancer/testis antigens identified in human melanoma. Int J Cancer. 2002 Apr 1;98(4):547-53.
- ↑ 2.0 2.1 Reymond A, Camargo AA, Deutsch S, Stevenson BJ, Parmigiani RB, Ucla C, Bettoni F, Rossier C, Lyle R, Guipponi M, de Souza S, Iseli C, Jongeneel CV, Bucher P, Simpson AJ, Antonarakis SE. Nineteen additional unpredicted transcripts from human chromosome 21. Genomics. 2002 Jun;79(6):824-32.
- ↑ 3.0 3.1 Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC, Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowski V, Fayet E, Yaspo ML, Korn B, Blouin JL, Lehrach H, Poutska A, Antonarakis SE, Sinet PM, Créau N, Delabar JM. Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. Genomics. 1998 Feb 15;48(1):12-23.
