scholarly journals Application of a Novel Strategy of Engineering Conditional Alleles to a Single Exon Gene, Sox2

PLoS ONE ◽  
2012 ◽  
Vol 7 (9) ◽  
pp. e45768 ◽  
Author(s):  
Nikolaos Mandalos ◽  
Marannia Saridaki ◽  
Jessica Lea Harper ◽  
Anastasia Kotsoni ◽  
Peter Yang ◽  
...  
Keyword(s):  
Novel Strategy ◽  
Single Exon Gene ◽  
Exon Gene

The mouse Sry locus harbors a cryptic exon that is essential for male sex determination

Science ◽  
2020 ◽  
Vol 370 (6512) ◽  
pp. 121-124 ◽  
Author(s):  
Shingo Miyawaki ◽  
Shunsuke Kuroki ◽  
Ryo Maeda ◽  
Naoki Okashita ◽  
Peter Koopman ◽  
...  
Keyword(s):  
Messenger Rna ◽  
Ectopic Expression ◽  
Cryptic Exon ◽  
Male Development ◽  
C Terminus ◽  
Bona Fide ◽  
Male Sex ◽  
Determining Factor ◽  
Single Exon Gene ◽  
Exon Gene

The mammalian sex-determining gene Sry induces male development. Since its discovery 30 years ago, Sry has been believed to be a single-exon gene. Here, we identified a cryptic second exon of mouse Sry and a corresponding two-exon type Sry (Sry-T) transcript. XY mice lacking Sry-T were sex-reversed, and ectopic expression of Sry-T in XX mice induced male development. Sry-T messenger RNA is expressed similarly to that of canonical single-exon type Sry (Sry-S), but SRY-T protein is expressed predominantly because of the absence of a degron in the C terminus of SRY-S. Sry exon2 appears to have evolved recently in mice through acquisition of a retrotransposon-derived coding sequence to replace the degron. Our findings suggest that in nature, SRY-T, not SRY-S, is the bona fide testis-determining factor.

Conditional knockout of Foxc2 gene in kidney: efficient generation of conditional alleles of single-exon gene by double-selection system

2015 ◽  
Vol 27 (1-2) ◽  
pp. 62-69 ◽  
Author(s):  
Masaru Motojima ◽  
Sanae Ogiwara ◽  
Taiji Matsusaka ◽  
Sang Yong Kim ◽  
Nobuho Sagawa ◽  
...  
Keyword(s):  
Conditional Knockout ◽  
Selection System ◽  
Efficient Generation ◽  
Single Exon Gene ◽  
Exon Gene

scholarly journals The evolution of the huntingtin-associated protein 40 (HAP40) in conjunction with huntingtin

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Manuel Seefelder ◽  
Vikram Alva ◽  
Bin Huang ◽  
Tatjana Engler ◽  
Wolfgang Baumeister ◽  
...  
Keyword(s):  
Evolutionary Conservation ◽  
Functional Importance ◽  
Free Living ◽  
Protein Databases ◽  
The Family ◽  
Sensitive Factor ◽  
Attachment Proteins ◽  
Single Exon Gene ◽  
Exon Gene ◽  
Naegleria Gruberi

Abstract Background The huntingtin-associated protein 40 (HAP40) abundantly interacts with huntingtin (HTT), the protein that is altered in Huntington’s disease (HD). Therefore, we analysed the evolution of HAP40 and its interaction with HTT. Results We found that in amniotes HAP40 is encoded by a single-exon gene, whereas in all other organisms it is expressed from multi-exon genes. HAP40 co-occurs with HTT in unikonts, including filastereans such as Capsaspora owczarzaki and the amoebozoan Dictyostelium discoideum, but both proteins are absent from fungi. Outside unikonts, a few species, such as the free-living amoeboflagellate Naegleria gruberi, contain putative HTT and HAP40 orthologs. Biochemically we show that the interaction between HTT and HAP40 extends to fish, and bioinformatic analyses provide evidence for evolutionary conservation of this interaction. The closest homologue of HAP40 in current protein databases is the family of soluble N-ethylmaleimide-sensitive factor attachment proteins (SNAPs). Conclusion Our results indicate that the transition from a multi-exon to a single-exon gene appears to have taken place by retroposition during the divergence of amphibians and amniotes, followed by the loss of the parental multi-exon gene. Furthermore, it appears that the two proteins probably originated at the root of eukaryotes. Conservation of the interaction between HAP40 and HTT and their likely coevolution strongly indicate functional importance of this interaction.

The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases

2019 ◽  
Vol 3 (1) ◽  
pp. 97-105
Author(s):  
Mary Zuccato ◽  
Dustin Shilling ◽  
David C. Fajgenbaum
Keyword(s):  
Rare Diseases ◽  
Treatment Options ◽  
Castleman Disease ◽  
High Impact ◽  
Collaborative Network ◽  
Network Approach ◽  
Grant Applications ◽  
Research Questions ◽  
Novel Strategy ◽  
Patient Centric

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.

Design and Optimization of a Novel Strategy for the Local Treatment of Helicobacter pylori Infections

2020 ◽  
Author(s):  
Taddese Mekonnen Ambay ◽  
Philipp Schick ◽  
Michael Grimm ◽  
Maximilian Sager ◽  
Felix Schneider ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Local Treatment ◽  
Design And Optimization ◽  
Novel Strategy
Sign in / Sign up

Export Citation Format

Share Document