Biology:RHCE (gene)
 Generic protein structure example |
Blood group Rh(CE) polypeptide is a protein that in humans is encoded by the RHCE gene.[1][2] RHCE has also recently been designated CD240CE (cluster of differentiation 240CE).
The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Alternative splicing of this gene results in four transcript variants encoding four different isoforms.[2]
A recent study in the population of the island of Sardinia shows the association of a noncoding variant in the RHCE gene (rs630337) with an increased erythrocyte sedimentation rate(ESR). This suggest a possible causal effect of this polymorphism on this inflammatory marker despite not found in coding region of the gene.[3]
References
- ↑ "Molecular genetic basis of the human Rhesus blood group system". Nat Genet 5 (1): 62–5. Dec 1993. doi:10.1038/ng0993-62. PMID 8220426.
- ↑ 2.0 2.1 "Entrez Gene: RHCE Rh blood group, CcEe antigens". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6006.
- ↑ Sidore C (2015). "Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers". Nature Genetics 47 (11): 1272–1281. doi:10.1038/ng.3368. PMID 26366554.
Further reading
- "Molecular biology of the Rh antigens.". Blood 78 (3): 551–63. 1991. doi:10.1182/blood.V78.3.551.551. PMID 1907207.
- "The Rh blood group system: a review.". Blood 95 (2): 375–87. 2000. doi:10.1182/blood.V95.2.375. PMID 10627438.
- "Molecular genetics of RH.". Vox Sang.. 78 Suppl 2: 109–15. 2000. PMID 10938938.
- "Review: the molecular basis of the Rh blood group phenotypes.". Immunohematology / American Red Cross 20 (1): 23–36. 2020. doi:10.21307/immunohematology-2019-419. PMID 15373666.
- "Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures.". Transfusion Clinique et Biologique 13 (1–2): 70–84. 2006. doi:10.1016/j.tracli.2006.02.001. PMID 16584906.
- "Multiple Rh messenger RNA isoforms are produced by alternative splicing.". Blood 80 (4): 1074–8. 1992. doi:10.1182/blood.V80.4.1074.1074. PMID 1379850.
- "Molecular cloning and primary structure of the human blood group RhD polypeptide.". Proc. Natl. Acad. Sci. U.S.A. 89 (22): 10925–9. 1992. doi:10.1073/pnas.89.22.10925. PMID 1438298. Bibcode: 1992PNAS...8910925L.
- "Molecular cloning and protein structure of a human blood group Rh polypeptide.". Proc. Natl. Acad. Sci. U.S.A. 87 (16): 6243–7. 1990. doi:10.1073/pnas.87.16.6243. PMID 1696722. Bibcode: 1990PNAS...87.6243C.
- "Regarding the size of Rh proteins.". Blood 77 (2): 411. 1991. doi:10.1182/blood.V77.2.411b.411b. PMID 1898705.
- "Localization of the human Rh blood group gene structure to chromosome region 1p34.3-1p36.1 by in situ hybridization.". Hum. Genet. 86 (4): 398–400. 1991. doi:10.1007/BF00201843. PMID 1900257.
- "Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene.". J. Invest. Dermatol. 96 (6): 908–15. 1991. doi:10.1111/1523-1747.ep12475433. PMID 2045679.
- "cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression.". Biochem. J. 271 (3): 821–5. 1990. doi:10.1042/bj2710821. PMID 2123099.
- "Determination of the N-terminal sequence of human red cell Rh(D) polypeptide and demonstration that the Rh(D), (c), and (E) antigens are carried by distinct polypeptide chains.". Blood 72 (2): 661–6. 1988. doi:10.1182/blood.V72.2.661.661. PMID 3135863.
- "Protein-sequence studies on Rh-related polypeptides suggest the presence of at least two groups of proteins which associate in the human red-cell membrane.". Biochem. J. 256 (3): 1043–6. 1989. doi:10.1042/bj2561043. PMID 3146980.
- "Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system.". Hum. Genet. 91 (2): 157–62. 1993. doi:10.1007/BF00222717. PMID 7916743.
- "Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region.". Genomics 19 (1): 68–74. 1994. doi:10.1006/geno.1994.1014. PMID 8188244.
- "Genetic recombination at the human RH locus: a family study of the red-cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene.". Am. J. Hum. Genet. 59 (4): 825–33. 1996. PMID 8808597.
- Huang CH (1996). "Alteration of RH gene structure and expression in human dCCee and DCW-red blood cells: phenotypic homozygosity versus genotypic heterozygosity.". Blood 88 (6): 2326–33. doi:10.1182/blood.V88.6.2326.bloodjournal8862326. PMID 8822955.
External links
- RHCE+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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