RHD sequencing
Ontology highlight
ABSTRACT:
PROVIDER: PRJEB55786 | ENA |
REPOSITORIES: ENA
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Project description:MicroRNAs (miRNAs) are non-protein-coding small RNAs in the size range 19–25 nucleotides (nt) that are cleaved from 70-100 nt hairpin pre-miRNA precursors.MiRNAs bind to complementary sequences in the 3′-untranslated regions of their target mRNAs and induce mRNA degradation or translational repression. Recent intensive studies have revealed that miRNAs play important roles in a large number of biological processes, including cellular differentiation, proliferation and death. These wide-ranging biological roles suggest that miRNAs may be involved in cancer development. MiRNAs regulate a variety of biological processes, including developmental timing, signal transduction, cell growth, and cell death.Kaposi’s sarcoma (KS) is a multicentric angioproliferative tumor of mesenchymal origin.8, 9 In 1872, the disease was first described by Moritz Kaposi, and it mostly affects elderly men of Italian, Jewish, or Mediterranean origin. In China, more than 90% of KS cases occur in Xinjiang,12-14 which is a multiethnic gathering place where Uyghur (45.7%) and Han (39.7%) are the main ethnic groups; other groups include the Kazakh (7%) and Hui(4.5%). The specific geographical environment and ethnic specificity may characterize some of the specific features of KS in this area, which might also be reflected in the miRNA expression profile in KS tissues. MicroRNAs (miRNAs) are non-protein-coding small RNAs in the size range 19–25 nucleotides (nt) that are cleaved from 70-100 nt hairpin pre-miRNA precursors.MiRNAs bind to complementary sequences in the 3′-untranslated regions of their target mRNAs and induce mRNA degradation or translational repression. Recent intensive studies have revealed that miRNAs play important roles in a large number of biological processes, including cellular differentiation, proliferation and death. These wide-ranging biological roles suggest that miRNAs may be involved in cancer development. MiRNAs regulate a variety of biological processes, including developmental timing, signal transduction, cell growth, and cell death.Kaposi’s sarcoma (KS) is a multicentric angioproliferative tumor of mesenchymal origin.8, 9 In 1872, the disease was first described by Moritz Kaposi, and it mostly affects elderly men of Italian, Jewish, or Mediterranean origin. In China, more than 90% of KS cases occur in Xinjiang,12-14 which is a multiethnic gathering place where Uyghur (45.7%) and Han (39.7%) are the main ethnic groups; other groups include the Kazakh (7%) and Hui(4.5%). The specific geographical environment and ethnic specificity may characterize some of the specific features of KS in this area, which might also be reflected in the miRNA expression profile in KS tissues.
2017-03-05 | GSE55625 | GEO
Project description:The Rh blood group system (ISBT004) is the second most important blood group after ABO and is the most polymorphic one, with 55 antigens encoded by 2 genes, RHD and RHCE This research uses next-generation sequencing (NGS) to sequence the complete RHD gene by amplifying the whole gene using overlapping long-range polymerase chain reaction (LR-PCR) amplicons. The aim was to study different RHD alleles present in the population to establish reference RHD allele sequences by using the analysis of intronic single-nucleotide polymorphisms (SNPs) and their correlation to a specific Rh haplotype. Genomic DNA samples (n = 69) from blood donors of different serologically predicted genotypes including R1R1 (DCe/DCe), R2R2 (DcE/DcE), R1R2 (DCe/DcE), R2RZ (DcE/DCE), R1r (DCe/dce), R2r (DcE/dce), and R0r (Dce/dce) were sequenced and data were then mapped to the human genome reference sequence hg38. We focused on the analysis of hemizygous samples, as these by definition will only have a single copy of RHD For the 69 samples sequenced, different exonic SNPs were detected that correlate with known variants. Multiple intronic SNPs were found in all samples: 21 intronic SNPs were present in all samples indicating their specificity to the RHD*DAU0 (RHD*10.00) haplotype which the hg38 reference sequence encodes. Twenty-three intronic SNPs were found to be R2 haplotype specific, and 15 were linked to R1, R0, and RZ haplotypes. In conclusion, intronic SNPs may represent a novel diagnostic approach to investigate known and novel variants of the RHD and RHCE genes, while being a useful approach to establish reference RHD allele sequences.
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Project description:To investigate the genetic basis of the Rh polypeptide gene, we attempted the isolation of cDNA clones for Rh polypeptide from a family with the RhD-positive and RhD-negative phenotypes using the reverse transcription (RT)-PCR method for each reticulocyte RNAs followed by subcloning. The isolated cDNAs showed the existence of another Rh-related clone (RhPII-1 cDNA, tentative designation) besides the RhPI and RhPII cDNA clones reported previously by us. The RhPII-1 cDNA had a single nucleotide substitution with one amino acid substitution compared with the RhPII cDNA:substitution C-->T in nucleotide 380, changing codon 127 from GCG to GTG (Ala-->Val). The RhPI, RhPII, and RhPII-1 cDNA clones were detected in all individuals by the PCR experiment. This suggests that the Rh polypeptide genes have been inherited from parents and might be highly polymorphic. The PCR amplification of an RhPII-specific region from reticulocyte RNA and genomic DNA in all the family proved that the RhPII gene exists in both RhD-positive and RhD-negative individuals. By Southern-blot analysis of the DNAs from the family, two independent polymorphisms concerning the RhC/c and RhD/d phenotypes were observed. These results demonstrate that the RhPI and RhPII genes are also present in the RhD-negative donors, and the RhPII-related cDNAs encode not the RhD, but the RhC/c and/or E/e, polypeptides.
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Project description:Novel RHD gene variant resulting in the abolition of the stop codon
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