PCR amplification and sequencing of whole blood DNA from an individual with hereditary spastic paraplegia, as well as family members, revealed a fragment of proteolipid protein 1 （PLP1） gene exon 1, which excluded t...PCR amplification and sequencing of whole blood DNA from an individual with hereditary spastic paraplegia, as well as family members, revealed a fragment of proteolipid protein 1 （PLP1） gene exon 1, which excluded the possibility of isomer 1 expression for this family. The fragment sequence of exon 3 and exon 5 was consistent with the proteolipid protein 1 sequence at NCBI. In the proband samples, a PLP1 point mutation in exon 4 was detected at the basic group of position 844, T→C, phenylalanine→leucine. In proband samples from a male cousin, the basic group at position 844 was C, but gene sequencing signals revealed mixed signals of T and C, indicating possible mutation at this locus. Results demonstrated that changes in PLP1 exon 4 amino acids were associated with onset of hereditary spastic paraplegia.展开更多
[ Objective] This study aimed to perform in silico cloning and bioinformatics analysis of OsARAB-1 gene from rice. [Method] Using NP 174188.1 as a query probe, the full-length cDNA sequence of OsARAB-1 gene was obtain...[ Objective] This study aimed to perform in silico cloning and bioinformatics analysis of OsARAB-1 gene from rice. [Method] Using NP 174188.1 as a query probe, the full-length cDNA sequence of OsARAB-1 gene was obtained by in silico cloning. The nucleotide sequence and protein sequence were analyzed by bioinformatics software. [Result] The full-length cDNA of OsARAB-1 gene was obtained. The coding sequence （CDS） of OsARAB-1 gene is 1 086 bp in length, encoding a protein of 361 amino acid residues. OsARAB-1 gene was located in the genome sequence NC 008398.2 （6 769 813 -6 773 213 bp segment） of rice chro- mosome 5 by in silico mapping. OsARAB-1 protein is an extracellular hydrophilic protein, which is relatively stable, slightly alkaline. The secondary structure of OsARAB-1 protein is mainly composed of or-helices and random coils. OsARAB-1 protein has two functional domains ： SGNH hydrolase-type esterase and GDSL li- pase. There are 21 phosphorylation sites and seven O-[3-GlcNAc glycosylation sites. The putative active-site amino acid residues are Ser34, Glyl07, Asn167, Asp333 and His336, respectively. OsARAB-1 protein has the closest genetic relationship with esterase subtype B4FM12 from maize. The expression of OsARAB-1 gene plays an important role in the development and morphogenesis of rice and is related with rice blast resistance. [ Conclusion] This study laid a solid foundation for cloning and functional identification of OsARAB-1 gene with experimental methods.展开更多
文摘PCR amplification and sequencing of whole blood DNA from an individual with hereditary spastic paraplegia, as well as family members, revealed a fragment of proteolipid protein 1 （PLP1） gene exon 1, which excluded the possibility of isomer 1 expression for this family. The fragment sequence of exon 3 and exon 5 was consistent with the proteolipid protein 1 sequence at NCBI. In the proband samples, a PLP1 point mutation in exon 4 was detected at the basic group of position 844, T→C, phenylalanine→leucine. In proband samples from a male cousin, the basic group at position 844 was C, but gene sequencing signals revealed mixed signals of T and C, indicating possible mutation at this locus. Results demonstrated that changes in PLP1 exon 4 amino acids were associated with onset of hereditary spastic paraplegia.
基金Supported by School-level Scientific Research Project of Hubei University of Science and Technology(ky14073)
文摘[ Objective] This study aimed to perform in silico cloning and bioinformatics analysis of OsARAB-1 gene from rice. [Method] Using NP 174188.1 as a query probe, the full-length cDNA sequence of OsARAB-1 gene was obtained by in silico cloning. The nucleotide sequence and protein sequence were analyzed by bioinformatics software. [Result] The full-length cDNA of OsARAB-1 gene was obtained. The coding sequence （CDS） of OsARAB-1 gene is 1 086 bp in length, encoding a protein of 361 amino acid residues. OsARAB-1 gene was located in the genome sequence NC 008398.2 （6 769 813 -6 773 213 bp segment） of rice chro- mosome 5 by in silico mapping. OsARAB-1 protein is an extracellular hydrophilic protein, which is relatively stable, slightly alkaline. The secondary structure of OsARAB-1 protein is mainly composed of or-helices and random coils. OsARAB-1 protein has two functional domains ： SGNH hydrolase-type esterase and GDSL li- pase. There are 21 phosphorylation sites and seven O-[3-GlcNAc glycosylation sites. The putative active-site amino acid residues are Ser34, Glyl07, Asn167, Asp333 and His336, respectively. OsARAB-1 protein has the closest genetic relationship with esterase subtype B4FM12 from maize. The expression of OsARAB-1 gene plays an important role in the development and morphogenesis of rice and is related with rice blast resistance. [ Conclusion] This study laid a solid foundation for cloning and functional identification of OsARAB-1 gene with experimental methods.
