scholarly journals Truncation Mutation

2020 ◽  
Author(s):  
Keyword(s):  
Truncation Mutation

scholarly journals Milder phenotype with SCN1A truncation mutation other than SMEI

Seizure ◽  
2010 ◽  
Vol 19 (7) ◽  
pp. 443-445 ◽  
Author(s):  
Mei-Juan Yu ◽  
Yi-Wu Shi ◽  
Mei-Mei Gao ◽  
Wei-Yi Deng ◽  
Xiao-Rong Liu ◽  
...  
Keyword(s):  
Truncation Mutation

scholarly journals Acute encephalopathy with a truncation mutation in the SCN1A gene: A case report

Epilepsia ◽  
2010 ◽  
Vol 51 (9) ◽  
pp. 1886-1888 ◽  
Author(s):  
Masaru Takayanagi ◽  
Kazuhiro Haginoya ◽  
Naoki Umehara ◽  
Taro Kitamura ◽  
Yurika Numata ◽  
...  
Keyword(s):  
Case Report ◽  
Acute Encephalopathy ◽  
Truncation Mutation ◽  
Scn1a Gene

scholarly journals P3-182: AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE ARISING FROM A NOVEL TRUNCATION MUTATION IN PSEN1

2019 ◽  
Vol 15 ◽  
pp. P1000-P1000
Author(s):  
John M. Ringman ◽  
Giovanni Coppola ◽  
Elizabeth B. Joe ◽  
Randall Bateman ◽  
John C. Morris ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Autosomal Dominant ◽  
Autosomal Dominant Alzheimer’S Disease ◽  
Truncation Mutation

scholarly journals Basonuclin 1 deficiency causes testicular premature aging: BNC1 cooperates with TAF7L to regulate spermatogenesis

2019 ◽  
Vol 12 (1) ◽  
pp. 71-83 ◽  
Author(s):  
Jing-Yi Li ◽  
Yi-Feng Liu ◽  
Hai-Yan Xu ◽  
Jun-Yu Zhang ◽  
Ping-Ping Lv ◽  
...  
Keyword(s):  
Nuclear Translocation ◽  
Binding Protein ◽  
Premature Aging ◽  
Specific Gene ◽  
Obstructive Azoospermia ◽  
Gene Promoters ◽  
Binding Studies ◽  
Truncation Mutation ◽  
Tata Box Binding Protein

Abstract Basonuclin (BNC1) is expressed primarily in proliferative keratinocytes and gametogenic cells. However, its roles in spermatogenesis and testicular aging were not clear. Previously we discovered a heterozygous BNC1 truncation mutation in a premature ovarian insufficiency pedigree. In this study, we found that male mice carrying the truncation mutation exhibited progressively fertility loss and testicular premature aging. Genome-wide expression profiling and direct binding studies (by chromatin immunoprecipitation sequencing) with BNC1 in mouse testis identified several spermatogenesis-specific gene promoters targeted by BNC1 including kelch-like family member 10 (Klhl10), testis expressed 14 (Tex14), and spermatogenesis and centriole associated 1 (Spatc1). Moreover, biochemical analysis showed that BNC1 was associated with TATA-box binding protein-associated factor 7 like (TAF7L), a germ cell-specific paralogue of the transcription factor IID subunit TAF7, both in vitro and in testis, suggesting that BNC1 might directly cooperate with TAF7L to regulate spermatogenesis. The truncation mutation disabled nuclear translocation of the BNC1/TAF7L complex, thus, disturbing expression of related genes and leading to testicular premature aging. Similarly, expressions of BNC1, TAF7L, Y-box-binding protein 2 (YBX2), outer dense fiber of sperm tails 1 (ODF1), and glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS) were significantly decreased in the testis of men with non-obstructive azoospermia. The present study adds to the understanding of the physiology of male reproductive aging and the mechanism of spermatogenic failure in infertile men.

scholarly journals Mechanism of ToxT-Dependent Transcriptional Activation at the Vibrio cholerae tcpA Promoter

2002 ◽  
Vol 184 (20) ◽  
pp. 5533-5544 ◽  
Author(s):  
Robin R. Hulbert ◽  
Ronald K. Taylor
Keyword(s):  
Rna Polymerase ◽  
Vibrio Cholerae ◽  
Transcriptional Activation ◽  
Point Mutations ◽  
Virulence Gene ◽  
Binding Studies ◽  
Virulence Gene Expression ◽  
Terminal Domain ◽  
Truncation Mutation ◽  
Genes Encoding

ABSTRACT The AraC homolog ToxT coordinately regulates virulence gene expression in Vibrio cholerae. ToxT is required for transcriptional activation of the genes encoding cholera toxin and the toxin coregulated pilus, among others. In this work we focused on the interaction of ToxT with the tcpA promoter and investigated the mechanism of ToxT-dependent transcriptional activation at tcpA. Deletion analysis showed that a region from −95 to +2 was sufficient for ToxT binding and activation, both of which were simultaneously lost when the deletion was extended to −63. A collection of point mutations generated by error-prone PCR revealed two small regions required for ToxT-dependent transactivation. Binding studies performed with representative mutations showed that the two regions define sites at which ToxT binds to the tcpA promoter region, most likely as a dimer. Results obtained by using a rpoA truncation mutation showed that ToxT-dependent activation at tcpA involves the C-terminal domain of the RNA polymerase alpha subunit. A model of ToxT-dependent transcriptional activation at tcpA is proposed, in which ToxT interacts with two A-rich regions of tcpA centered at −72 and −51 and requires the alpha C-terminal domain of RNA polymerase.

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