HLA-A null allele with a stop codon, HLA-A * 0215N, identified in a homozygous state in a healthy adult

1995 ◽  
Vol 43 (1-2) ◽  
Author(s):  
Yoshihide Ishikawa ◽  
Katsushi Tokunaga ◽  
Hidenori Tanaka ◽  
Motoko Nishimura ◽  
Masato Muraoka ◽  
...  
Keyword(s):  
Null Allele ◽  
Healthy Adult ◽  
Stop Codon ◽  
Homozygous State

Identification of a new HLA-A null allele,A*30:59N, with a stop codon in exon 3, by sequence-based typing

2013 ◽  
Vol 82 (6) ◽  
pp. 430-432 ◽  
Author(s):  
X.-M. Nie ◽  
Y.-J. Zhu ◽  
Y. Zhang ◽  
W.-B. Qiao
Keyword(s):  
Null Allele ◽  
Stop Codon

An HLA-B null allele (B*1526N) with a stop codon in exon 3 generated by a point mutation

1997 ◽  
Vol 50 (4) ◽  
pp. 351-354 ◽  
Author(s):  
H. Mine ◽  
Y. Ishikawa ◽  
M. Hojo ◽  
S. Imashuku ◽  
K. Tokunaga ◽  
...  
Keyword(s):  
Point Mutation ◽  
Null Allele ◽  
Stop Codon

A HLA-A null allele (A*24:132N) with a stop codon in exon 3 generated by a point mutation

2012 ◽  
Vol 80 (5) ◽  
pp. 464-465 ◽  
Author(s):  
H. -Y. Zou ◽  
S. -Z. Jin ◽  
Z. Li
Keyword(s):  
Point Mutation ◽  
Null Allele ◽  
Stop Codon

scholarly journals Physiological Knockout of the Envelope Gene of the Single-Copy ERV-3 Human Endogenous Retrovirus in a Fraction of the Caucasian Population

1998 ◽  
Vol 72 (4) ◽  
pp. 3442-3445 ◽  
Author(s):  
Nathalie de Parseval ◽  
Thierry Heidmann
Keyword(s):  
Stop Codon ◽  
Single Copy ◽  
Endogenous Retrovirus ◽  
Human Endogenous Retrovirus ◽  
Envelope Gene ◽  
Sequence Variability ◽  
Homozygous State ◽  
Evolutionarily Conserved ◽  
Essential Function ◽  
Conserved Gene

ABSTRACT ERV-3 is an evolutionarily conserved single-copy human endogenous retrovirus with a coding envelope gene potentially involved in important placental functions. We have investigated the sequence variability of this gene among 150 unrelated Caucasian individuals and found eight polymorphic sites. One of them corresponds to the introduction of a stop codon resulting in the production of a severely truncated ERV-3 envelope protein lacking both the fusion peptide and the immunosuppressive domain of the protein. The stop codon is observed in a homozygous state in approximately 1% of Caucasian individuals without evidence for counterselection, thus precluding the involvement of any essential function of the gene in placental implantation and development. This natural knockout provides a mean to investigate other potential roles for this otherwise highly conserved gene.

Aberrant splicing of a naturally occurring alcohol dehydrogenase null activity allele in Drosophila melanogaster

Genome ◽  
1990 ◽  
Vol 33 (6) ◽  
pp. 873-877
Author(s):  
Allan L. Freeth ◽  
John B. Gibson ◽  
Ann Verona Wilks
Keyword(s):  
Drosophila Melanogaster ◽  
Alcohol Dehydrogenase ◽  
Null Allele ◽  
Stop Codon ◽  
Aberrant Splicing ◽  
S1 Nuclease ◽  
Mature Adult ◽  
Exon 2 ◽  
Naturally Occurring ◽  
Intron 2

The DNA sequence of a naturally occurring alcohol dehydrogenase null activity allele, AdhnAC14, has eight extra nucleotides (in two groups of four) in the second intron, commencing six bases 3′ from the 5′ splice site. A stop codon was also found in exon 2. S1 nuclease protection experiments have shown that the insertions in intron 2 disrupt the correct splicing of intron 2. The null allele produces a transcript approximately 100 bases longer than the normal mature adult transcript, and the amount of the null allele transcript is only about 10% of the normal level.Key words: alcohol dehydrogenase, null allele, splicing, S1 nuclease, Drosophila melanogaster.

A novel HLA-A null allele (A*02:395N) with stop codon in exon 2 generated by single nucleotide exchange

2013 ◽  
Vol 81 (6) ◽  
pp. 451-452 ◽  
Author(s):  
P. Jindra ◽  
P. Venigová ◽  
L. Houdová ◽  
K. Steinerová
Keyword(s):  
Null Allele ◽  
Stop Codon ◽  
Nucleotide Exchange ◽  
Single Nucleotide ◽  
Exon 2

Interleukin 10-induced thrombocytopenia in normal healthy adult volunteers: evidence for decreased platelet production

2000 ◽  
Vol 111 (1) ◽  
pp. 104-111 ◽  
Author(s):  
Jeffrey A. Sosman ◽  
Amit Verma ◽  
Steven Moss ◽  
Patricia Sorokin ◽  
Michael Blend ◽  
...  
Keyword(s):  
Healthy Adult ◽  
Interleukin 10 ◽  
Platelet Production ◽  
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