Entry - *600789 - RIBOSOMAL PROTEIN L23-LIKE; RPL23L - OMIM
 
* 600789

RIBOSOMAL PROTEIN L23-LIKE; RPL23L


Alternative titles; symbols

L23 MITOCHONDRIAL-RELATED PROTEIN; L23MRP; MRPL23


HGNC Approved Gene Symbol: MRPL23

Cytogenetic location: 11p15.5     Genomic coordinates (GRCh38): 11:1,947,332-2,014,944 (from NCBI)


TEXT

Cloning and Expression

The closely linked insulin growth factor-2 (IGF2; 147470) and H19 (103280) genes on 11p15.5 are monoallelically expressed as the result of genomic imprinting and show altered expression in Wilms tumors (WT1; 607102). To map regional imprinting, Tsang et al. (1995) sought to isolate additional genes close to IGF2/H19 and to characterize their allelic expression patterns. They reported a novel gene, which they provisionally named L23MRP (for L23 mitochondrial-related protein), which is oriented 'tail-to-tail' with H19 and is transcribed to within 40-kb of the last H19 exon. L23MRP is expressed biallelically in many mid-fetal and adult human tissues. The gene is also expressed at normal levels in Wilms tumors, which have lost expression of H19 either via loss of the maternal chromosome 11p15.5 or via an epigenetic pathway involving site-specific DNA hypermethylation. These data indicated that, at least in postembryonic stages, L23MRP is functionally insulated from the IGF2/H19 imprinted domain.


Mapping

Tsang et al. (1995) identified the L23MRP gene on chromosome 11p15.5.


REFERENCES

  1. Tsang, P., Gilles, F., Yuan, L., Kuo, Y.-H., Lupu, F., Samara, G., Moosikasuwan, J., Goye, A., Zelenetz, A. D., Selleri, L., Tycko, B. A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues. Hum. Molec. Genet. 4: 1499-1507, 1995. [PubMed: 8541832, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 9/23/1995
carol : 03/25/2014
ckniffin : 8/26/2002
psherman : 12/22/1998
mark : 9/23/1995

* 600789

RIBOSOMAL PROTEIN L23-LIKE; RPL23L


Alternative titles; symbols

L23 MITOCHONDRIAL-RELATED PROTEIN; L23MRP; MRPL23


HGNC Approved Gene Symbol: MRPL23

Cytogenetic location: 11p15.5     Genomic coordinates (GRCh38): 11:1,947,332-2,014,944 (from NCBI)


TEXT

Cloning and Expression

The closely linked insulin growth factor-2 (IGF2; 147470) and H19 (103280) genes on 11p15.5 are monoallelically expressed as the result of genomic imprinting and show altered expression in Wilms tumors (WT1; 607102). To map regional imprinting, Tsang et al. (1995) sought to isolate additional genes close to IGF2/H19 and to characterize their allelic expression patterns. They reported a novel gene, which they provisionally named L23MRP (for L23 mitochondrial-related protein), which is oriented 'tail-to-tail' with H19 and is transcribed to within 40-kb of the last H19 exon. L23MRP is expressed biallelically in many mid-fetal and adult human tissues. The gene is also expressed at normal levels in Wilms tumors, which have lost expression of H19 either via loss of the maternal chromosome 11p15.5 or via an epigenetic pathway involving site-specific DNA hypermethylation. These data indicated that, at least in postembryonic stages, L23MRP is functionally insulated from the IGF2/H19 imprinted domain.


Mapping

Tsang et al. (1995) identified the L23MRP gene on chromosome 11p15.5.


REFERENCES

  1. Tsang, P., Gilles, F., Yuan, L., Kuo, Y.-H., Lupu, F., Samara, G., Moosikasuwan, J., Goye, A., Zelenetz, A. D., Selleri, L., Tycko, B. A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues. Hum. Molec. Genet. 4: 1499-1507, 1995. [PubMed: 8541832] [Full Text: https://doi.org/10.1093/hmg/4.9.1499]


Creation Date:
Victor A. McKusick : 9/23/1995

Edit History:
carol : 03/25/2014
ckniffin : 8/26/2002
psherman : 12/22/1998
mark : 9/23/1995