Rearrangement at the 5' end of amplified c-myc in human COLO 320 cells is associated with abnormal transcription

1986 ◽  
Vol 6 (7) ◽  
pp. 2752-2755
Author(s):  
M Schwab ◽  
K H Klempnauer ◽  
K Alitalo ◽  
H Varmus ◽  
M Bishop
Keyword(s):  
Nucleotide Sequence ◽  
B Cell ◽  
Break Point ◽  
Normal Allele ◽  
Sequence Analyses ◽  
Double Minutes ◽  
Exon 1

The proto-oncogene c-myc is amplified in sublines of human COLO 320 cells carrying either homogeneously staining chromosomal regions or double minutes. COLO 320 cells carrying homogeneously staining chromosomal regions have 15 to 20 copies of an apparently normal c-myc allele and 1 to 2 copies of an abnormal c-myc allele lacking exon 1 and express high levels of a normal c-myc mRNA 2.5 kilobases in size. COLO 320 cells carrying double minutes have about 25 copies each of the normal allele and the abnormal allele but express preferentially an abnormal c-myc mRNA 2.2 kilobases in size. Nucleotide sequence analyses revealed that the break point of rearrangement resulting in the loss of exon 1 in the abnormal allele lies within a region frequently rearranged in human and murine B-cell tumors.

scholarly journals Rearrangement at the 5' end of amplified c-myc in human COLO 320 cells is associated with abnormal transcription.

1986 ◽  
Vol 6 (7) ◽  
pp. 2752-2755 ◽  
Author(s):  
M Schwab ◽  
K H Klempnauer ◽  
K Alitalo ◽  
H Varmus ◽  
M Bishop
Keyword(s):  
Nucleotide Sequence ◽  
B Cell ◽  
Break Point ◽  
Normal Allele ◽  
Sequence Analyses ◽  
Double Minutes ◽  
Exon 1

The proto-oncogene c-myc is amplified in sublines of human COLO 320 cells carrying either homogeneously staining chromosomal regions or double minutes. COLO 320 cells carrying homogeneously staining chromosomal regions have 15 to 20 copies of an apparently normal c-myc allele and 1 to 2 copies of an abnormal c-myc allele lacking exon 1 and express high levels of a normal c-myc mRNA 2.5 kilobases in size. COLO 320 cells carrying double minutes have about 25 copies each of the normal allele and the abnormal allele but express preferentially an abnormal c-myc mRNA 2.2 kilobases in size. Nucleotide sequence analyses revealed that the break point of rearrangement resulting in the loss of exon 1 in the abnormal allele lies within a region frequently rearranged in human and murine B-cell tumors.

scholarly journals Plasmodium vivax Cysteine-Rich Protective Antigen Polymorphism at Exon-1 Shows Recombination and Signatures of Balancing Selection

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 29
Author(s):  
Lilia González-Cerón ◽  
José Cebrián-Carmona ◽  
Concepción M. Mesa-Valle ◽  
Federico García-Maroto ◽  
Frida Santillán-Valenzuela ◽  
...  
Keyword(s):  
Amino Acid ◽  
B Cell ◽  
Plasmodium Vivax ◽  
Nucleotide Diversity ◽  
Protective Antigen ◽  
Balancing Selection ◽  
Southern Mexico ◽  
Exon 2 ◽  
Exon 1 ◽  
Tajima’S D

Plasmodium vivax Cysteine-Rich Protective Antigen (CyRPA) is a merozoite protein participating in the parasite invasion of human reticulocytes. During natural P. vivax infection, antibody responses against PvCyRPA have been detected. In children, low anti-CyRPA antibody titers correlated with clinical protection, which suggests this protein as a potential vaccine candidate. This work analyzed the genetic and amino acid diversity of pvcyrpa in Mexican and global parasites. Consensus coding sequences of pvcyrpa were obtained from seven isolates. Other sequences were extracted from a repository. Maximum likelihood phylogenetic trees, genetic diversity parameters, linkage disequilibrium (LD), and neutrality tests were analyzed, and the potential amino acid polymorphism participation in B-cell epitopes was investigated. In 22 sequences from Southern Mexico, two synonymous and 21 nonsynonymous mutations defined nine private haplotypes. These parasites had the highest LD-R2 index and the lowest nucleotide diversity compared to isolates from South America or Asia. The nucleotide diversity and Tajima’s D values varied across the coding gene. The exon-1 sequence had greater diversity and Rm values than those of exon-2. Exon-1 had significant positive values for Tajima’s D, β-α values, and for the Z (HA: dN > dS) and MK tests. These patterns were similar for parasites of different origin. The polymorphic amino acid residues at PvCyRPA resembled the conformational B-cell peptides reported in PfCyRPA. Diversity at pvcyrpa exon-1 is caused by mutation and recombination. This seems to be maintained by balancing selection, likely due to selective immune pressure, all of which merit further study.

Molecular cloning and nucleotide sequence of a transforming gene detected by transfection of chicken B-cell lymphoma DNA

Nature ◽  
1983 ◽  
Vol 302 (5904) ◽  
pp. 114-119 ◽  
Author(s):  
Gerard Goubin ◽  
Debra S. Goldman ◽  
Judith Luce ◽  
Paul E. Neiman ◽  
Geoffrey M. Cooper
Keyword(s):  
Nucleotide Sequence ◽  
B Cell ◽  
Molecular Cloning ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Transforming Gene

scholarly journals ID: 1048 A novel nonsense mutation in the CYP21A2 gene of a Vietnamese patient with congenital adrenal hyperplasia

2017 ◽  
Vol 4 (S) ◽  
pp. 129
Author(s):  
Vu Chi Dung ◽  
Ngoc Lan Nguyen ◽  
Huy Hoang Nguyen ◽  
Thi Kim Lien Nguyen ◽  
Thinh Huy Tran ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Nonsense Mutation ◽  
Stop Codon ◽  
Large Deletion ◽  
Heterozygous Mutation ◽  
Normal Allele ◽  
Adrenal Hyperplasia ◽  
Steroid Synthesis ◽  
Cyp21a2 Gene ◽  
Exon 1

Inactivating mutations in the CYP21A2 gene which encodes the protein involved in steroid synthesis have been reported in the patients with congenital adrenal hyperplasia (CAH). An infant who diagnosed with the severe phenotype of CAH such as increasing testicular volume, elevating of 17-hydroxyprogesteron, testosterone and progesterone and his family were subjected for genetic studies. Initially, we used PCR and direct sequencing to screen mutations in the CYP21 gene in the proband and his family. We identified a novel nonsense mutation c.374C>G predicts a substitution of serine for a stop codon at codon 125 (p.S125*) within exon 3 in the proband. However, the inheritance pattern of the mutation was not consistent with disease causation because of a heterozygous mutation carrier in father and sibling, wild-type alleles in mother but mutant alleles in proband. This inspired us to find deletions of exon using multiplex ligation-dependent probe amplification (MLPA) assay. In the profiles of MLPA electropherogram, the proband had a large deletion in exon 3, but his mother did not have. It means that the proband inherited a normal allele from his mother and a mutant allele from his father, but the deletion of a normal allele occurred in the proband. Therefore, mutation c.374C>G (p.S125*) in exon 3 in the proband is considered as a heterozygous deletion mutation. In addition, a large deletion in exon 1 in the maternal allele in the proband is observed. Taking together, the proband carried a nonsense mutation accompanied with two deletions in exon 1 and exon 3 in the CYP21A2 gene affect the CAH phenotype severity. These mutations also expand the CYP21A2 mutation spectrum in CAH disorder. This case also highlights the need of caution when interpreting results of molecular genetics and biochemical testing during genetic counseling.

Nucleotide Sequence of Rice Dwarf Phytoreovirus Genome Segment 2: Completion of Sequence Analyses of Rice Dwarf Virus

Intervirology ◽  
1994 ◽  
Vol 37 (1) ◽  
pp. 6-11 ◽  
Author(s):  
Ichiro Uyeda ◽  
Narushi Suda ◽  
Naoki Yamada ◽  
Hiroshi Kudo ◽  
Kazunori Murao ◽  
...  
Keyword(s):  
Nucleotide Sequence ◽  
Genome Segment ◽  
Dwarf Virus ◽  
Rice Dwarf Virus ◽  
Sequence Analyses

scholarly journals Detection of Tn917-Like Sequences within a Tn916-like Conjugative Transposon (Tn3872) in Erythromycin-Resistant Isolates of Streptococcus pneumoniae

1998 ◽  
Vol 42 (9) ◽  
pp. 2312-2318 ◽  
Author(s):  
Linda K. McDougal ◽  
Fred C. Tenover ◽  
Linda N. Lee ◽  
J. Kamile Rasheed ◽  
Jan E. Patterson ◽  
...  
Keyword(s):  
Streptococcus Pneumoniae ◽  
Nucleotide Sequence ◽  
Dna Hybridization ◽  
Antimicrobial Agents ◽  
Kanamycin Resistance ◽  
Sequence Analyses ◽  
Conjugative Transposon ◽  
Resistance Phenotype ◽  
Genetic Elements ◽  
Resistant Strains

ABSTRACT A series of macrolide-lincosamide-streptogramin B (MLS)-resistant pneumococcal isolates of a variety of serotypes was examined and was found to contain Tn917-like elements by DNA-DNA hybridization. Like Tn1545, Tn917 also encodes an ermAM gene but does not mediate resistance to other antimicrobial agents. Furthermore, nucleotide sequence analyses of the DNAs flanking three of the Tn917-like elements revealed that they were inserted into orf9 of a Tn916-like element in a composite transposon-like structure (Tn3872). Other MLS-resistant strains appeared to contain Tn1545-like elements that had suffered a deletion of sequences including the aphA-3 sequences responsible for kanamycin resistance. Thus, the MLS resistance phenotype in pneumococci appears to be mediated by the ermAM present on a much wider variety of genetic elements than was previously appreciated.

scholarly journals An ankyrin-related gene (unc-44) is necessary for proper axonal guidance in Caenorhabditis elegans.

1995 ◽  
Vol 129 (4) ◽  
pp. 1081-1092 ◽  
Author(s):  
A J Otsuka ◽  
R Franco ◽  
B Yang ◽  
K H Shim ◽  
L Z Tang ◽  
...  
Keyword(s):  
Caenorhabditis Elegans ◽  
Nucleotide Sequence ◽  
Axon Guidance ◽  
Axonal Guidance ◽  
Related Gene ◽  
Sequence Analyses ◽  
Molecular Analyses ◽  
Molecular Studies ◽  
Alternatively Spliced ◽  
Related Proteins

Caenorhabditis elegans unc-44 mutations result in aberrant axon guidance and fasciculation with inappropriate partners. The unc-44 gene was cloned by transposon tagging, and verified by genetic and molecular analyses of six transposon-induced alleles and their revertants. Nucleotide sequence analyses demonstrated that unc-44 encodes a series of putative ankyrin-related proteins, including AO49 ankyrin (1815 aa, 198.8 kD), AO66 ankyrin (1867 aa, 204 kD), and AO13 ankyrin (< or = 4700 aa, < or = 517 kD). In addition to the major set of approximately 6 kb alternatively spliced transcripts, minor transcripts were observed at approximately 3, 5, 7, and 14 kb. Evidence is provided that mutations in the approximately 14-kb AO13 ankyrin transcript are responsible for the neuronal defects. These molecular studies provide the first evidence that ankyrin-related molecules are required for axonal guidance.

Epidemiology and Etiopathology of Human T-Lymphotropic Viruses: Diagnostic and Clinical Implications for Non-Endemic Areas

1994 ◽  
Vol 80 (2) ◽  
pp. 88-100 ◽  
Author(s):  
Annarosa Del Mistro ◽  
Maria Luisa Calabrò ◽  
Anna Favero ◽  
Luigi Chieco-Bianchi
Keyword(s):  
Nucleotide Sequence ◽  
Drug Users ◽  
Clinical Implications ◽  
Intravenous Drug Users ◽  
Type I ◽  
Sequence Analyses ◽  
Diagnostic Strategies ◽  
Molecular Assays ◽  
Endemic Areas

Human T-lymphotropic viruses (HTLV) type I and II were first described more than a decade ago. HTLV-I epidemiology and etiopathology are more defined than those of HTLV-II, but conflicting results have been obtained in seroepidemiologic surveys, mainly for difficulties in the discrimination between the two infections. The introduction of advanced serologic and molecular assays has recently provided sensitive and specific tools for diagnosis, and the epidemiologic and etiopathologic patterns linked to these retroviruses are being more precisely defined. Moreover, extensive nucleotide sequence analyses performed so far have mainly focused on HTLV-I isolates. The recent discovery of new HTLV-II endemic areas and the isolation of HTLV-II strains from intravenous drug users have finally provided the material for the molecular characterization of HTLV-II isolates, which is now a rapidly envolving field. We review the diagnostic strategies available and the etiologic associations reported so far for both viruses and also discuss the occurrence and significance of indeterminate serologic reactivities observed in both endemic and non-endemic areas.

Sign in / Sign up

Export Citation Format

Share Document