scholarly journals European archive for mouse mutants is set to open at last

Nature ◽  
10.1038/18280 ◽  
1999 ◽  
Vol 398 (6724) ◽  
pp. 183-183
Author(s):  
Alison Abbott
Keyword(s):  
European Archive ◽  
Mouse Mutants

scholarly journals Deficiency of the onco-miRNA cluster, miR-106b∼25, causes oligozoospermia and the cooperative action of miR-106b∼25 and miR-17∼92 is required to maintain male fertility

2020 ◽  
Vol 26 (6) ◽  
pp. 389-401
Author(s):  
Alicia Hurtado ◽  
Rogelio Palomino ◽  
Ina Georg ◽  
Miguel Lao ◽  
Francisca M Real ◽  
...  
Keyword(s):  
Male Fertility ◽  
Molecular Mechanisms ◽  
Mirna Cluster ◽  
Knock Out ◽  
Cooperative Action ◽  
Mouse Mutants ◽  
New Genes ◽  
Mirna Clusters ◽  
Testicular Histology ◽  
And Function

Abstract The identification of new genes involved in sexual development and gonadal function as potential candidates causing male infertility is important for both diagnostic and therapeutic purposes. Deficiency of the onco-miRNA cluster miR-17∼92 has been shown to disrupt spermatogenesis, whereas mutations in its paralog cluster, miR-106b∼25, that is expressed in the same cells, were reported to have no effect on testis development and function. The aim of this work is to determine the role of these two miRNA clusters in spermatogenesis and male fertility. For this, we analyzed miR-106b∼25 and miR-17∼92 single and double mouse mutants and compared them to control mice. We found that miR-106b∼25 knock out testes show reduced size, oligozoospermia and altered spermatogenesis. Transcriptomic analysis showed that multiple molecular pathways are deregulated in these mutant testes. Nevertheless, mutant males conserved normal fertility even when early spermatogenesis and other functions were disrupted. In contrast, miR-17∼92+/−; miR-106b∼25−/− double mutants showed severely disrupted testicular histology and significantly reduced fertility. Our results indicate that miR-106b∼25 and miR-17∼92 ensure accurate gene expression levels in the adult testis, keeping them within the required thresholds. They play a crucial role in testis homeostasis and are required to maintain male fertility. Hence, we have identified new candidate genetic factors to be screened in the molecular diagnosis of human males with reproductive disorders. Finally, considering the well-known oncogenic nature of these two clusters and the fact that patients with reduced fertility are more prone to testicular cancer, our results might also help to elucidate the molecular mechanisms linking both pathologies.

Genetic control of dorsal-ventral identity in the telencephalon: opposing roles for Pax6 and Gsh2

Development ◽  
2000 ◽  
Vol 127 (20) ◽  
pp. 4361-4371 ◽  
Author(s):  
H. Toresson ◽  
S.S. Potter ◽  
K. Campbell
Keyword(s):  
Cerebral Cortex ◽  
Gene Function ◽  
Abnormal Development ◽  
Loss Of Function ◽  
Embryonic Mouse ◽  
Molecular Identity ◽  
Mouse Mutants ◽  
Germinal Zone ◽  
Genetic Mechanisms ◽  
Dlx Genes

We have examined the genetic mechanisms that regulate dorsal-ventral identity in the embryonic mouse telencephalon and, in particular, the specification of progenitors in the cerebral cortex and striatum. The respective roles of Pax6 and Gsh2 in cortical and striatal development were studied in single and double loss-of-function mouse mutants. Gsh2 gene function was found to be essential to maintain the molecular identity of early striatal progenitors and in its absence the ventral telencephalic regulatory genes Mash1 and Dlx are lost from most of the striatal germinal zone. In their place, the dorsal regulators, Pax6, neurogenin 1 and neurogenin 2 are found ectopically. Conversely, Pax6 is required to maintain the correct molecular identity of cortical progenitors. In its absence, neurogenins are lost from the cortical germinal zone and Gsh2, Mash1 and Dlx genes are found ectopically. These reciprocal alterations in cortical and striatal progenitor specification lead to the abnormal development of the cortex and striatum observed in Pax6 (small eye) and Gsh2 mutants, respectively. In support of this, double homozygous mutants for Pax6 and Gsh2 exhibit significant improvements in both cortical and striatal development compared with their respective single mutants. Taken together, these results demonstrate that Pax6 and Gsh2 govern cortical and striatal development by regulating genetically opposing programs that control the expression of each other as well as the regionally expressed developmental regulators Mash1, the neurogenins and Dlx genes in telencephalic progenitors.

scholarly journals Germline deletion of CIN85 in humans with X chromosome–linked antibody deficiency

2018 ◽  
Vol 215 (5) ◽  
pp. 1327-1336 ◽  
Author(s):  
Baerbel Keller ◽  
Moneef Shoukier ◽  
Kathrin Schulz ◽  
Arshiya Bhatt ◽  
Ines Heine ◽  
...  
Keyword(s):  
B Lymphocytes ◽  
X Chromosome ◽  
Immune Cell ◽  
Antibody Deficiency ◽  
Limited Information ◽  
Cell Type ◽  
Interacting Protein ◽  
Mouse Mutants ◽  
Cell Type Specific

Ubiquitously expressed Cbl-interacting protein of 85 kD (CIN85) is a multifunctional adapter molecule supposed to regulate numerous cellular processes that are critical for housekeeping as well as cell type–specific functions. However, limited information exists about the in vivo roles of CIN85, because only conditional mouse mutants with cell type–specific ablation of distinct CIN85 isoforms in brain and B lymphocytes have been generated so far. No information is available about the roles of CIN85 in humans. Here, we report on primary antibody deficiency in patients harboring a germline deletion within the CIN85 gene on the X chromosome. In the absence of CIN85, all immune cell compartments developed normally, but B lymphocytes showed intrinsic defects in distinct effector pathways of the B cell antigen receptor, most notably NF-κB activation and up-regulation of CD86 expression on the cell surface. These results reveal nonredundant functions of CIN85 for humoral immune responses.

Use of the UCHT1 monoclonal antibody to explore mouse mutants and development

Nature ◽  
1982 ◽  
Vol 300 (5891) ◽  
pp. 441-443 ◽  
Author(s):  
K. W. T. Caddy ◽  
D. L. Patterson ◽  
T. J. Biscoe
Keyword(s):  
Monoclonal Antibody ◽  
Mouse Mutants

Development of Structures and Transport Functions in the Mouse Placenta

Physiology ◽  
2005 ◽  
Vol 20 (3) ◽  
pp. 180-193 ◽  
Author(s):  
Erica D. Watson ◽  
James C. Cross
Keyword(s):  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Cell Biology ◽  
Fetal Death ◽  
Nutrient Transport ◽  
Growth Restriction ◽  
Molecular Pathways ◽  
Placental Development ◽  
Mouse Mutants ◽  
Mouse Placenta

The placenta is essential for sustaining the growth of the fetus during gestation, and defects in its function result in fetal growth restriction or, if more severe, fetal death. Several molecular pathways have been identified that are essential for development of the placenta, and mouse mutants offer new insights into the cell biology of placental development and physiology of nutrient transport.

scholarly journals The reconfiguration of the European Archive in contemporary German-Jewish migrant-literature

2017 ◽  
Vol 28 (1) ◽  
pp. 38-54
Author(s):  
Jessica Ortner
Keyword(s):  
European Archive ◽  
Eastern European ◽  
History Writing ◽  
Migrant Literature ◽  
Holocaust Memory ◽  
Political Concern ◽  
The Holocaust ◽  
Mass Shooting ◽  
History Of ◽  
German Jewish

A considerable number of Eastern European migrant authors of Jewish origin are currently lifting Holocaust memory to a new level. Writing in German about events taking place in remote areas of the world, they expand the German framework of memory from a national to a transnational one. By partaking in reconsidering what is ‘vital for a shared remembering’ of Europe, this branch of writing reflects the European Union’s political concern for integrating the memories of the socialistic regimes in European history writing without relativising the Holocaust. In Vielleicht Esther, Katja Petrowskaja consults various national and private archives in order to recount the history of the mass shooting of over 30,000 Ukrainian Jews at Babij Jar – a canyon near Kiev. Thus, she ‘carries’ a marginalised event of the Holocaust into the German framework of memory and uncovers the layers of amnesia that have not only concealed the event amongst the Soviet public but also distorted and for ever made inaccessible her family’s past.

scholarly journals SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Fei Liang ◽  
Bo Wang ◽  
Juan Geng ◽  
Guoling You ◽  
Jingjing Fa ◽  
...  
Keyword(s):  
Embryonic Stem ◽  
Stem Cell Differentiation ◽  
Deletion Syndrome ◽  
Marker Genes ◽  
Embryonic Stem Cell Differentiation ◽  
Cardiomyocyte Differentiation ◽  
Mouse Mutants ◽  
Heart Field ◽  
Cardiomyocyte Number ◽  
Molecular Etiology

Chromosome 4q deletion is one of the most frequently detected genomic imbalance events in congenital heart disease (CHD) patients. However, a portion of CHD-associated 4q deletions without known CHD genes suggests unknown CHD genes within these intervals. Here, we have shown that knockdown of SORBS2, a 4q interval gene, disrupted sarcomeric integrity of cardiomyocytes and caused reduced cardiomyocyte number in human embryonic stem cell differentiation model. Molecular analyses revealed decreased expression of second heart field (SHF) marker genes and impaired NOTCH and SHH signaling in SORBS2-knockdown cells. Exogenous SHH rescued SORBS2 knockdown-induced cardiomyocyte differentiation defects. Sorbs2-/- mouse mutants had atrial septal hypoplasia/aplasia or double atrial septum (DAS) derived from impaired posterior SHF with a similar expression alteration. Rare SORBS2 variants were significantly enriched in a cohort of 300 CHD patients. Our findings indicate that SORBS2 is a regulator of SHF development and its variants contribute to CHD pathogenesis. The presence of DAS in Sorbs2-/- hearts reveals the first molecular etiology of this rare anomaly linked to paradoxical thromboembolism.

scholarly journals A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Tooba Quidwai ◽  
Jiaolong Wang ◽  
Emma A Hall ◽  
Narcis A Petriman ◽  
Weihua Leng ◽  
...  
Keyword(s):  
Coat Protein ◽  
Membrane Proteins ◽  
Sequence Homology ◽  
Protein Complex ◽  
Intraflagellar Transport ◽  
Retrograde Transport ◽  
Ciliary Membrane ◽  
Mouse Mutants ◽  
Core Components

Intraflagellar transport (IFT) is a highly conserved mechanism for motor-driven transport of cargo within cilia, but how this cargo is selectively transported to cilia is unclear. WDR35/IFT121 is a component of the IFT-A complex best known for its role in ciliary retrograde transport. In the absence of WDR35, small mutant cilia form but fail to enrich in diverse classes of ciliary membrane proteins. In Wdr35 mouse mutants, the non-core IFT-A components are degraded and core components accumulate at the ciliary base. We reveal deep sequence homology of WDR35 and other IFT-A subunits to α and ß' COPI coatomer subunits, and demonstrate an accumulation of 'coat-less' vesicles which fail to fuse with Wdr35 mutant cilia. We determine that recombinant non-core IFT-As can bind directly to lipids and provide the first in-situ evidence of a novel coat function for WDR35, likely with other IFT-A proteins, in delivering ciliary membrane cargo necessary for cilia elongation.

scholarly journals Reduced Adolescent-Age Spatial Learning Ability Associated with Elevated Juvenile-Age Superoxide Levels in Complex I Mouse Mutants

PLoS ONE ◽  
2015 ◽  
Vol 10 (4) ◽  
pp. e0123863 ◽  
Author(s):  
Johannes Mayer ◽  
Gesine Reichart ◽  
Tursonjan Tokay ◽  
Falko Lange ◽  
Simone Baltrusch ◽  
...  
Keyword(s):  
Spatial Learning ◽  
Complex I ◽  
Learning Ability ◽  
Mouse Mutants ◽  
Juvenile Age
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