doi: 10.1007/s100380070018.
The human ribosomal protein L6 gene in a critical region for Noonan syndrome
Affiliations
- PMID: 11043511
- DOI: 10.1007/s100380070018
Item in Clipboard
The human ribosomal protein L6 gene in a critical region for Noonan syndrome
J Hum Genet.
2000.
Abstract
We have determined the genomic structure of the human ribosomal protein L6 gene (RPL6) and assigned it to the interval containing the Noonan syndrome locus. RPL6 spans 4415bp and consists of seven exons and six introns. The first exon is only 19bp in length, containing a 5' non-coding region and a polypyrimidine tract. The second exon starts with the initiator ATG. Although the overall structure of the protein is highly conserved among mammalian species, there is significant variation in the N-terminal portion. We have refined the position of RPL6, using two different radiation hybrid panels. RPL6 was mapped to chromosome 12q24.1 between the markers D12S84 and D12S861, which is in the critical region for Noonan syndrome.
Similar articles
-
[Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes].Yi Chuan Xue Bao. 2004 May;31(5):431-43. Yi Chuan Xue Bao. 2004. PMID: 15478601 Chinese.
-
Mapping a gene for Noonan syndrome to the long arm of chromosome 12.Nat Genet. 1994 Dec;8(4):357-60. doi: 10.1038/ng1294-357. Nat Genet. 1994. PMID: 7894486
-
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.Nat Genet. 2001 Dec;29(4):465-8. doi: 10.1038/ng772. Nat Genet. 2001. PMID: 11704759
-
Characterization of the human mitochondrial ribosomal S12 gene.Genomics. 1998 Sep 15;52(3):363-8. doi: 10.1006/geno.1998.5448. Genomics. 1998. PMID: 9790755
-
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.Gene. 2004 May 12;332:119-27. doi: 10.1016/j.gene.2004.02.044. Gene. 2004. PMID: 15145061
Cited by
-
The other lives of ribosomal proteins.Hum Genomics. 2010 Jun;4(5):327-44. doi: 10.1186/1479-7364-4-5-327. Hum Genomics. 2010. PMID: 20650820 Free PMC article. Review.
-
Identification and analysis of over 2000 ribosomal protein pseudogenes in the human genome.Genome Res. 2002 Oct;12(10):1466-82. doi: 10.1101/gr.331902. Genome Res. 2002. PMID: 12368239 Free PMC article.
-
Downregulated RPL6 inhibits lung cancer cell proliferation and migration and promotes cell apoptosis by regulating the AKT signaling pathway.J Thorac Dis. 2022 Feb;14(2):507-514. doi: 10.21037/jtd-22-116. J Thorac Dis. 2022. PMID: 35280491 Free PMC article.
-
Comparative analysis of phosphorylated proteomes between plerocercoid and adult Spirometra mansoni reveals phosphoproteomic profiles of the medical tapeworm.Parasit Vectors. 2024 Aug 31;17(1):371. doi: 10.1186/s13071-024-06454-8. Parasit Vectors. 2024. PMID: 39217359 Free PMC article.
-
The human ribosomal protein genes: sequencing and comparative analysis of 73 genes.Genome Res. 2002 Mar;12(3):379-90. doi: 10.1101/gr.214202. Genome Res. 2002. PMID: 11875025 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Molecular Biology Databases