scholarly journals Effects of a synonymous variant in exon 9 of the CD44 gene on pre-mRNA splicing in a family with osteoporosis

Bone ◽  
2009 ◽  
Vol 45 (4) ◽  
pp. 736-742 ◽  
Author(s):  
Christopher Vidal ◽  
Adela Cachia ◽  
Angela Xuereb-Anastasi
Keyword(s):  
Mrna Splicing ◽  
Synonymous Variant ◽  
Exon 9

The maize transposable Ds1 element is alternatively spliced from exon sequences

1991 ◽  
Vol 11 (12) ◽  
pp. 6192-6196
Author(s):  
S R Wessler
Keyword(s):  
Alternative Splicing ◽  
Mrna Splicing ◽  
Splice Sites ◽  
Ac Element ◽  
Alternatively Spliced ◽  
Wx Gene ◽  
Exon 9

The null wx-ml allele contains a 409-bp Dissociation 1 (Ds1) element in exon 9 of the maize waxy (Wx) gene. In the absence of the autonomous Activator (Ac) element, the Ds1 element cannot transpose, and this allele encodes several Wx transcripts that arise following alternative splicing of Ds1 sequences from Wx pre-mRNA. Splicing involves the utilization of three 5' splice sites and three 3' splice sites. All but one of these splice sites are in Ds1 sequences near the ends of the element. The presence of 5' and 3' splice sites near the Ds1 termini and the element's small size and AT richness are features that distinguish Ds1 elements from all other known Ds elements. It is suggested that these features may enhance the ability of Ds1 to function as a mobile intron.

scholarly journals The maize transposable Ds1 element is alternatively spliced from exon sequences.

1991 ◽  
Vol 11 (12) ◽  
pp. 6192-6196 ◽  
Author(s):  
S R Wessler
Keyword(s):  
Alternative Splicing ◽  
Mrna Splicing ◽  
Splice Sites ◽  
Ac Element ◽  
Alternatively Spliced ◽  
Wx Gene ◽  
Exon 9

The null wx-ml allele contains a 409-bp Dissociation 1 (Ds1) element in exon 9 of the maize waxy (Wx) gene. In the absence of the autonomous Activator (Ac) element, the Ds1 element cannot transpose, and this allele encodes several Wx transcripts that arise following alternative splicing of Ds1 sequences from Wx pre-mRNA. Splicing involves the utilization of three 5' splice sites and three 3' splice sites. All but one of these splice sites are in Ds1 sequences near the ends of the element. The presence of 5' and 3' splice sites near the Ds1 termini and the element's small size and AT richness are features that distinguish Ds1 elements from all other known Ds elements. It is suggested that these features may enhance the ability of Ds1 to function as a mobile intron.

Organization of transcription and pre-mRNA splicing within the mammalian cell nucleus

1995 ◽  
Vol 53 ◽  
pp. 768-769
Author(s):  
D.L. Spector ◽  
S. Huang ◽  
S. Kaurin
Keyword(s):  
Rna Polymerase Ii ◽  
Cell Nucleus ◽  
Functional Organization ◽  
Mrna Splicing ◽  
Splicing Factors ◽  
Interchromatin Granule Clusters ◽  
Interchromatin Granule ◽  
Nuclear Regions ◽  
Relationship Of ◽  
Perichromatin Fibrils

We have been interested in the organization of RNA polymerase II transcription and pre-mRNA splicing within the cell nucleus. Several models have been proposed for the functional organization of RNA within the eukaryotic nucleus and for the relationship of this organization to the distribution of pre-mRNA splicing factors. One model suggests that RNAs which must be spliced are capable of recruiting splicing factors to the sites of transcription from storage and/or reassembly sites. When one examines the organization of splicing factors in the nucleus in comparison to the sites of chromatin it is clear that splicing factors are not localized in coincidence with heterochromatin (Fig. 1). Instead, they are distributed in a speckled pattern which is composed of both perichromatin fibrils and interchromatin granule clusters. The perichromatin fibrils are distributed on the periphery of heterochromatin and on the periphery of interchromatin granule clusters as well as being diffusely distributed throughout the nucleoplasm. These nuclear regions have been previously shown to represent initial sites of incorporation of 3H-uridine.

Homozygous mutation in ABCA3 Lipid-Transporter defect (EXON 9) and low level of surfactant protein C

2010 ◽  
Vol 222 (S 01) ◽  
Author(s):  
J Pöschl ◽  
P Ruef ◽  
M Griese ◽  
P Lohse ◽  
C Aslanidis ◽  
...  
Keyword(s):  
Protein C ◽  
Surfactant Protein ◽  
Homozygous Mutation ◽  
Surfactant Protein C ◽  
Low Level ◽  
Exon 9 ◽  
Lipid Transporter

Mutationsanalysen zur Therapieoptimierung gefordert

2010 ◽  
Vol 01 (02) ◽  
pp. 96-96
Author(s):  
Petra Eiden
Keyword(s):  
Growth Factor ◽  
Platelet Derived Growth Factor ◽  
Gastrointestinale Stromatumoren ◽  
Exon 9 ◽  
Exon 11

Gastrointestinale Stromatumoren (GIST), an denen in Deutschland jährlich etwa 1250 Menschen neu erkranken, entstehen aus mesenchymalen, interstitiellen Stammzellen im Bereich des Auerbach-Plexus, weit überwiegend aufgrund spezifischer Mutationen im Gen des KIT-, seltener auch des PDGF-Rezeptors (Platelet Derived Growth Factor), die zur Selbstaktivierung der Rezeptoren führen. Die meisten KIT-Mutationen liegen im Exon 11 (ca. 65%) oder Exon 9 (ca. 15%). Da Chemo- und Strahlentherapie keine Wirksamkeit erzielen, stellte die Entwicklung der Tyrosinkinase-Inhibitoren (TKI) Imatinib und Sunitinib laut Prof. Jörg Thomas Hartmann, Tübingen, einen deutlichen Fort-schritt dar: Sie unterbrechen die Selbstaktivierung der Rezeptoren, indem sie diese in-trazellulär blockieren.

Regulation of insulin receptor mRNA splicing in rat tissues. Effect of fasting, aging, and diabetes

Diabetes ◽  
1995 ◽  
Vol 44 (10) ◽  
pp. 1196-1201 ◽  
Author(s):  
H. Vidal ◽  
D. Auboeuf ◽  
M. Beylot ◽  
J. P. Riou
Keyword(s):  
Insulin Receptor ◽  
Mrna Splicing ◽  
Rat Tissues ◽  
Receptor Mrna

Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders

2012 ◽  
Vol 14 (3) ◽  
pp. 239-252
Keyword(s):  
Molecular Mechanisms ◽  
Protein Localization ◽  
Regulation Of Gene Expression ◽  
Neuronal Cell ◽  
Mrna Splicing ◽  
Genetic Mutations ◽  
Scaffolding Proteins ◽  
Molecular Processes ◽  
Genetic Studies ◽  
Novel Treatments

In this review, we outline critical molecular processes that have been implicated by discovery of genetic mutations in autism. These mechanisms need to be mapped onto the neurodevelopment step(s) gone awry that may be associated with cause in autism. Molecular mechanisms include: (i) regulation of gene expression; (ii) pre-mRNA splicing; (iii) protein localization, translation, and turnover; (iv) synaptic transmission; (v) cell signaling; (vi) the functions of cytoskeletal and scaffolding proteins; and (vii) the function of neuronal cell adhesion molecules. While the molecular mechanisms appear broad, they may converge on only one of a few steps during neurodevelopment that perturbs the structure, function, and/or plasticity of neuronal circuitry. While there are many genetic mutations involved, novel treatments may need to target only one of few developmental mechanisms.

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