scholarly journals Resistance to Infection by Subgroups B, D, and E Avian Sarcoma and Leukosis Viruses Is Explained by a Premature Stop Codon within a Resistance Allele of the tvb Receptor Gene

2002 ◽  
Vol 76 (15) ◽  
pp. 7918-7921 ◽  
Author(s):  
Sara Klucking ◽  
Heather B. Adkins ◽  
John A. T. Young
Keyword(s):  
Stop Codon ◽  
Receptor Gene ◽  
Premature Stop Codon ◽  
Resistance Allele ◽  
Truncated Protein ◽  
Single Base ◽  
Single Base Pair ◽  
Resistance To Infection ◽  
Avian Sarcoma

ABSTRACT Here we present the first molecular characterization of the defect associated with an avian sarcoma and leukosis virus (ASLV) receptor resistance allele, tvb r. We show that resistance to infection by subgroups B, D, and E ASLV is explained by the presence of a single base pair mutation that distinguishes this allele from tvb s1, an allele which encodes a receptor for all three viral subgroups. This mutation generates an in-frame stop codon that is predicted to lead to the production of a severely truncated protein.

Molecular and Cellular Characterization of a New α-Thalassemia Mutation (HBA2:c.94A>C) Generating an Alternative Splice Site and a Premature Stop Codon

Hemoglobin ◽  
2012 ◽  
Vol 36 (3) ◽  
pp. 244-252 ◽  
Author(s):  
Talal Qadah ◽  
Jill Finlayson ◽  
Christopher Newbound ◽  
Nicole Pell ◽  
Michelle Pascoe ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Splice Site ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Alternative Splice Site ◽  
Thalassemia Mutation

scholarly journals Evidence for Distinctive Mechanisms of S-Nitrosoglutathione Metabolism by AdhC in Two Closely Related Species, Neisseria gonorrhoeae and Neisseria meningitidis

2007 ◽  
Vol 75 (3) ◽  
pp. 1534-1536 ◽  
Author(s):  
Adam J. Potter ◽  
Stephen P. Kidd ◽  
Michael P. Jennings ◽  
Alastair G. McEwan
Keyword(s):  
Neisseria Gonorrhoeae ◽  
Neisseria Meningitidis ◽  
Related Species ◽  
Mutational Analysis ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Oxidoreductase Activity ◽  
Closely Related Species ◽  
Single Base ◽  
Base Insertion

ABSTRACT The adhC gene from 11 strains of Neisseria gonorrhoeae was distinguished from its homologue in Neisseria meningitidis by the presence of a premature stop codon caused by a single base insertion. Mutational analysis showed that NADH S-nitrosoglutathione oxidoreductase activity was associated with adhC in Neisseria meningitidis but not in Neisseria gonorrhoeae.

scholarly journals Identification of a single base-pair mutation of TAA (Stop codon) → GAA (Glu) that causes light chain extension in a CHO cell derived IgG1

mAbs ◽  
2012 ◽  
Vol 4 (6) ◽  
pp. 694-700 ◽  
Author(s):  
Taylor Zhang ◽  
Yungfu Huang ◽  
Scott Chamberlain ◽  
Tony Romeo ◽  
Judith Zhu-Shimoni ◽  
...  
Keyword(s):  
Light Chain ◽  
Base Pair ◽  
Stop Codon ◽  
Chain Extension ◽  
Cho Cell ◽  
Single Base ◽  
Single Base Pair

scholarly journals A Transcriptionally Active Human Type II Gonadotropin-Releasing Hormone Receptor Gene Homolog Overlaps Two Genes in the Antisense Orientation on Chromosome 1q.12

Endocrinology ◽  
2003 ◽  
Vol 144 (2) ◽  
pp. 423-436 ◽  
Author(s):  
Kevin Morgan ◽  
Darrell Conklin ◽  
Adam J. Pawson ◽  
Robin Sellar ◽  
Thomas R. Ott ◽  
...  
Keyword(s):  
Stop Codon ◽  
Receptor Gene ◽  
Premature Stop Codon ◽  
Gene Promoter ◽  
Peptide Hormone ◽  
Translation Initiation Site ◽  
Type Ii ◽  
Stem Loop ◽  
Chromosome 1Q ◽  
Human Receptor

GnRH-II peptide hormone exhibits complete sequence conservation across vertebrate species, including man. Type-II GnRH receptor genes have been characterized recently in nonhuman primates, but the human receptor gene homolog contains a frameshift, a premature stop codon (UGA), and a 3′ overlap of the RBM8A gene on chromosome 1q.12. A retrotransposed pseudogene, RBM8B, retains partial receptor sequence. In this study, bioinformatics show that the human receptor gene promoter overlaps the peroxisomal protein11-β gene promoter and the premature UGA is positionally conserved in chimpanzee. A CGA [arginine (Arg)] occurs in porcine DNA, but UGA is shifted one codon to the 5′ direction in bovine DNA, suggesting independent evolution of premature stop codons. In contrast to marmoset tissue RNA, exon- and strand-specific probes are required to distinguish differently spliced human receptor gene transcripts in cell lines (HP75, IMR-32). RBM8B is not transcribed. Sequencing of cDNAs for spliced receptor mRNAs showed no evidence for alteration of the premature UGA by RNA editing, but alternative splicing circumvents the frameshift to encode a two-membrane-domain protein before this UGA. A stem-loop motif resembling a selenocysteine insertion sequence and a potential alternative translation initiation site might enable expression of further proteins involved in interactions within the GnRH system.

scholarly journals Adrenocorticotropin-Dependent Precocious Puberty of Testicular Origin in a Boy with X-Linked Adrenal Hypoplasia Congenita Due to a Novel Mutation in the DAX1 Gene

2001 ◽  
Vol 86 (9) ◽  
pp. 4068-4071 ◽  
Author(s):  
Sorahia Domenice ◽  
Ana Claudia Latronico ◽  
Vinicius Nahime Brito ◽  
Ivo Jorge Prado Arnhold ◽  
Fernando Kok ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Precocious Puberty ◽  
Stop Codon ◽  
Novel Mutation ◽  
Direct Sequencing ◽  
Receptor Gene ◽  
Premature Stop Codon ◽  
Rare Condition ◽  
Coding Region ◽  
Primary Adrenal Insufficiency

Primary adrenal insufficiency is a rare condition in pediatric age, and its association with precocious sexual development is very uncommon. We report a 2-yr-old Brazilian boy with DAX1 gene mutation whose first clinical manifestation was isosexual gonadotropin-independent precocious puberty. He presented with pubic hair, enlarged penis and testes, and advanced bone age. T levels were elevated, whereas basal and GnRH-stimulated LH levels were compatible with a prepubertal pattern. Chronic GnRH agonist therapy did not reduce T levels, supporting the diagnosis of gonadotropin-independent precocious puberty. Testotoxicosis was ruled out after normal sequencing of exon 11 of the LH receptor gene. At age 3 yr he developed clinical and hormonal features of severe primary adrenal insufficiency. The entire coding region of the DAX1 gene was analyzed through direct sequencing. A nucleotide G insertion between nucleotides 430 and 431 in exon 1, resulting in a novel frameshift mutation and a premature stop codon at position 71 of DAX-1, was identified. Surprisingly, steroid replacement therapy induced a clear decrease in testicular size and T levels to the prepubertal range. These findings suggest that chronic excessive ACTH levels resulting from adrenal insufficiency may stimulate Leydig cells and lead to gonadotropin-independent precocious puberty in some boys with DAX1 gene mutations.

scholarly journals Complete Androgen Insensitivity Caused by a New Frameshift Deletion of Two Base Pairs in Exon 1 of the Human Androgen Receptor Gene1

1999 ◽  
Vol 84 (5) ◽  
pp. 1751-1753 ◽  
Author(s):  
Brigitta Thiele ◽  
Wolfgang Weidemann ◽  
Doris Schnabel ◽  
Gabriela Romalo ◽  
Hans-Udo Schweikert ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Stop Codon ◽  
Novel Mutation ◽  
Reductase Activity ◽  
Receptor Gene ◽  
Premature Stop Codon ◽  
Androgen Receptor Gene ◽  
Coding Region ◽  
Androgen Insensitivity ◽  
Exon 1

We describe a novel mutation in exon 1 of the androgen receptor gene in a patient with complete androgen insensitivity (CAIS). Endocrine findings were typical for androgen insensitivity (testosterone serum levels in the upper limit of normal males and increased LH serum concentrations). Biochemical investigations in cultured genital skin fibroblasts of the patient showed a normal 5α-reductase activity but a complete absence of androgen binding. Western blot analysis revealed no detectable protein product. Sequence analysis of the entire coding region of the androgen receptor gene resulted in the identification of a 2-bp deletion in codon 472, causing frameshift and introduction of a premature stop codon 27 codons downstream of the mutation.

scholarly journals Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients

2021 ◽  
Author(s):  
Sacha Laurent ◽  
Corinne Gehrig ◽  
Thierry Nouspikel ◽  
Sami S Amr ◽  
Andrea Oza ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Allelic Loss ◽  
Loss Of Function ◽  
Chain Reactions ◽  
Polymerase Chain Reactions ◽  
Long Read ◽  
Gene Conversions

Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been reported in the literature but never fully described nor their pathogenicity assessed. Here, we report two unrelated patients with moderate hearing-loss, who were compound heterozygotes for a converted allele and a deletion of OTOA. The conversions were initially detected through sequencing depths anomalies at the OTOA locus after exome sequencing, then confirmed with long range polymerase chain reactions. Both conversions lead to loss-of-function by introducing a premature stop codon in exon 22 (p.Glu787*). Using genomic alignments and long read nanopore sequencing, we found that the two probands carry stretches of converted DNA of widely different lengths (at least 9 kbp and around 900 bp, respectively).

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