scholarly journals Intron Splice Region Mutation

2020 ◽  
Author(s):  
Keyword(s):  
Intron Splice

Genetic Diversity Analysis of Salvadora Oleoides Decne: An Evergreen Dry Land Fruit Tree of Rajasthan, India

2021 ◽  
Author(s):  
Juleri M Upendra ◽  
Shari Nair ◽  
Satyawada R Rao ◽  
Harchand R Dagla
Keyword(s):  
Genetic Diversity ◽  
Random Amplified Polymorphic Dna ◽  
Splice Junction ◽  
Genetic Distances ◽  
Climatic Conditions ◽  
Fruit Tree ◽  
Group Method ◽  
Dry Land ◽  
Intron Splice ◽  
Semi Arid

Abstract Genetic diversity of Salvadora oleoides Decne is analyzed by cumulative data of 10 Random Amplified Polymorphic DNA (RAPD), 10 Inter Simple Sequence Repeats (ISSR) and 7 Intron Splice Junction (ISJ) markers. The plant is an evergreen fruit tree and well distributed in semi-arid and sub-humid climatic conditions of Rajasthan, India. RAPD, ISSR and ISJ primers accounted for 84.4%, 85.3%, 85.9% polymorphism. Average 0.23 PIC is accounted for RAPD, ISSR and ISJ primers. The genetic similarity ranged between 0.42-0.89. Analysis of molecular variance (AMOVA) revealed higher variation (73%) at intra-population than inter-population (27%) level. Genetic distances based on Un-weighted Pair Group Method with Arithmetic mean (UPGMA) dendrogram and Principal Coordinate Analysis (PCoA) is correlated with physical distances or climatic conditions of Salvadora oleoides Decne in a semi-arid and sub-humid environment of Rajasthan. The present investigation may help in the understanding of gene flow systems between physical distances and environmental heterogeneity of the populations for better management of Salvadora oleoides Decne in the region.

scholarly journals A mutation in the intron splice acceptor site of a GA3ox gene confers dwarf architecture in watermelon (Citrullus lanatus L.)

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Yuyan Sun ◽  
Huiqing Zhang ◽  
Min Fan ◽  
Yanjun He ◽  
Pingan Guo
Keyword(s):  
Citrullus Lanatus ◽  
Recessive Gene ◽  
Labor Cost ◽  
Chromosome 9 ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Subcellular Targeting ◽  
Lodging Resistance ◽  
Intron Splice

Abstract Dwarf architecture is an important trait associated with plant yield, lodging resistance and labor cost. Here, we aimed to identify a gene causing dwarfism in watermelon. The ‘w106’ (dwarf) and ‘Charleston Gray’ (vine) were used as parents to construct F1 and F2 progeny. Dwarf architecture of ‘w106’ was mainly caused by longitudinal cell length reduction and was controlled by a single recessive gene. Whole-genome sequencing of two parents and two bulk DNAs of F2 population localized this gene to a 2.63-Mb region on chromosome 9; this was further narrowed to a 541-kb region. Within this region, Cla015407, encoding a gibberellin 3β-hydroxylase (GA3ox), was the candidate gene. Cla015407 had a SNP mutation (G → A) in the splice acceptor site of the intron, leading to altered splicing event and generating two splicing isoforms in dwarf plants. One splicing isoform retained the intron sequences, while the other had a 13-bp deletion in the second exon of GA3ox transcript, both resulting in truncated proteins and loss of the functional Fe2OG dioxygenase domain in dwarf plants. RNA-Seq analysis indicated that expression of Cla015407 and other GA biosynthetic and metabolic genes were mostly up-regulated in the shoots of dwarf plants compared with vine plants in F2 population. Measurement of endogenous GA levels indicated that bioactive GA4 was significantly decreased in the shoots of dwarf plants. Moreover, the dwarf phenotype can be rescued by exogenous applications of GA3 or GA4+7, with the latter having a more distinct effect than the former. Subcellular localization analyses of GA3ox proteins from two parents revealed their subcellular targeting in nucleus and cytosol. Here, a GA3ox gene controlling dwarf architecture was identified, and loss function of GA3ox leads to GA4 reduction and dwarfism phenotype in watermelon.

Intron splice acceptor site polymorphism in the human MSH2 gene in ulcerative colitis

1998 ◽  
Vol 114 ◽  
pp. A1057
Author(s):  
M. Palicio ◽  
A.S. Peña ◽  
F. Lluís ◽  
G. Bouma ◽  
J.B.A. Crusius ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Msh2 Gene ◽  
Splice Acceptor ◽  
Intron Splice

Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2

1994 ◽  
Vol 30 (10) ◽  
pp. 1550-1552 ◽  
Author(s):  
N.R. Hall ◽  
G.R. Taylor ◽  
P.J. Finan ◽  
R.D. Kolodner ◽  
W.F. Bodmer ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Sequence Variation ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Cancer Gene ◽  
Splice Acceptor ◽  
Intron Splice

scholarly journals Utilização do Intron Splice Site primer EI-1 na discriminação de leveduras contaminantes do processo de fermentação alcoólica

2010 ◽  
Vol 30 (3) ◽  
pp. 761-765
Author(s):  
Rodrigo Bacelar da Costa-Silva ◽  
Mario Ribeiro de Melo-Júnior ◽  
Marcos Antônio de Moraes Junior
Keyword(s):  
Splice Site ◽  
Intron Splice

scholarly journals A Silent Exonic Mutation in a Rice Integrin-α FG-GAP Repeat-Containing Gene Causes Male-Sterility by Affecting mRNA Splicing

2020 ◽  
Vol 21 (6) ◽  
pp. 2018 ◽  
Author(s):  
Ting Zou ◽  
Dan Zhou ◽  
Wenjie Li ◽  
Guoqiang Yuan ◽  
Yang Tao ◽  
...  
Keyword(s):  
Pollen Development ◽  
Molecular Mapping ◽  
Higher Plants ◽  
Donor Site ◽  
Splice Junction ◽  
Splice Donor Site ◽  
Terrestrial Plants ◽  
Male Sterile ◽  
Intron Splice ◽  
Rice Mutant

Pollen development plays crucial roles in the life cycle of higher plants. Here we characterized a rice mutant with complete male-sterile phenotype, pollen-less 1 (pl1). pl1 exhibited smaller anthers with arrested pollen development, absent Ubisch bodies, necrosis-like tapetal hypertrophy, and smooth anther cuticular surface. Molecular mapping revealed a synonymous mutation in the fourth exon of PL1 co-segregated with the mutant phenotype. This mutation disrupts the exon-intron splice junction in PL1, generating aberrant mRNA species and truncated proteins. PL1 is highly expressed in the tapetal cells of developing anther, and its protein is co-localized with plasma membrane (PM) and endoplasmic reticulum (ER) signal. PL1 encodes an integrin-α FG-GAP repeat-containing protein, which has seven β-sheets and putative Ca2+-binding motifs and is broadly conserved in terrestrial plants. Our findings therefore provide insights into both the role of integrin-α FG-GAP repeat-containing protein in rice male fertility and the influence of exonic mutation on intronic splice donor site selection.

Non-Inversion Factor VIII Mutations in 80 Hemophilia A Families Including 24 with Alloimmune Responses

2002 ◽  
Vol 87 (02) ◽  
pp. 273-276 ◽  
Author(s):  
Miao-Liang Liu ◽  
Shelley Nakaya ◽  
Arthur Thompson
Keyword(s):  
Factor Viii ◽  
Hemophilia A ◽  
De Novo ◽  
High Titer ◽  
Direct Sequencing ◽  
Normal Variant ◽  
Missense Mutations ◽  
Gene Deletions ◽  
Intron Splice ◽  
Splice Junctions

SummaryHeteroduplex screening identified 74 small mutations in the factor VIII genes of 72 families with hemophilia A. In addition, patients from 3 families with high titer inhibitors had partial gene deletions and 5 unrelated families that were negative for heteroduplex formation had a mutation on direct sequencing. The latter had mild hemophilia A with an inhibitor, and sequencing their exon 23 fragments found a transition predicting a recurrent Arg2150 to His. Of 69 distinct mutations (including the 3 partial gene deletions), 47 are novel. Of small mutations, 51 were missense (one possibly a normal variant and two that could also alter splicing) at 39 sites, 13 were small deletions or insertions (3 inframe and one a normal variant in an intron), 13 were nonsense at 12 sites and 2 altered intron splice junctions. In 24 families, at least one affected member had evidence for an alloimmune response to factor VIII; of these, 11 were associated with missense mutations. In 14 families, de novo origin was demonstrated.

scholarly journals Dm3 Is One Member of a Large Constitutively Expressed Family of Nucleotide Binding Site—Leucine-Rich Repeat Encoding Genes

2002 ◽  
Vol 15 (3) ◽  
pp. 251-261 ◽  
Author(s):  
Katherine A. Shen ◽  
Doris B. Chin ◽  
Rosa Arroyo-Garcia ◽  
Oswaldo E. Ochoa ◽  
Dean O. Lavelle ◽  
...  
Keyword(s):  
Binding Site ◽  
Downy Mildew ◽  
Point Mutations ◽  
Nucleotide Binding ◽  
Nucleotide Binding Site ◽  
Leucine Rich Repeat ◽  
Intron Splice ◽  
Major Cluster ◽  
Wide Range ◽  
Encoding Genes

The major cluster of resistance genes in lettuce cv. Diana contains approximately 32 nucleotide binding site—leucine-rich repeat encoding genes. Previous molecular dissection of this complex region had identified a large gene, RGC2B, as a candidate for encoding the downy mildew resistance gene, Dm3. This article describes genetic and transgenic complementation data that demonstrated RGC2B is necessary and sufficient to confer resistance with Dm3 specificity. Ethylmethanesulphonate was used to induce mutations to downy mildew susceptibility in cv. Diana (Dm1, Dm3, Dm7, and Dm8). Nineteen families were identified with a complete loss of resistance in one of the four resistance specificities. Sequencing revealed a variety of point mutations in RGC2B in the six dm3 mutants. Losses of resistance were due to single changes in amino acid sequence or a change in an intron splice site. These mutations did not cluster in any particular region of RGC2B. A full-length ge-nomic copy of RGC2B was isolated from a lambdaphage library and introduced into two genotypes of lettuce. Trans-genics expressing RGC2B exhibited resistance to all isolates expressing Avr3 from a wide range of geographical origins. In a wildtype Dm3-expressing genotype, many of the RGC2 family members are expressed at low levels throughout the plant.

scholarly journals Imprecise excision of the Caenorhabditis elegans transposon Tc1 creates functional 5' splice sites.

1994 ◽  
Vol 14 (5) ◽  
pp. 3426-3433 ◽  
Author(s):  
B Carr ◽  
P Anderson
Keyword(s):  
Caenorhabditis Elegans ◽  
Splice Site ◽  
General Characteristic ◽  
Chain Gene ◽  
Splice Sites ◽  
Wild Type ◽  
Reading Frame ◽  
Intron Splice ◽  
Mature Mrna ◽  
Imprecise Excision

Imprecise excision of the Caenorhabditis elegans transposon Tc1 from a specific site of insertion within the unc-54 myosin heavy chain gene generates either wild-type or partial phenotypic revertants. Wild-type revertants and one class of partial revertants contain insertions of four nucleotides in the unc-54 third exon (Tc1 "footprints"). Such revertants express large amounts of functional unc-54 myosin despite having what would appear to be frameshifting insertions in the unc-54 third exon. We demonstrate that these Tc1 footprints act as efficient 5' splice sites for removal of the unc-54 third intron. Splicing of these new 5' splice sites to the normal third intron splice acceptor removes the Tc1 footprint from the mature mRNA and restores the normal translational reading frame. Partial revertant unc-54(r661), which contains a single nucleotide substitution relative to the wild-type gene, is spliced similarly, except that the use of its new 5' splice site creates a frameshift in the mature mRNA rather than removing one. In all of these revertants, two alternative 5' splice sites are available to remove intron 3. We determined the relative efficiency with which each alternative 5' splice site is used by stabilizing frameshifted mRNAs with smg(-) genetic backgrounds. In all cases, the upstream member of the two alternative sites is used preferentially (> 75% utilization). This may reflect an inherent preference of the splicing machinery for the upstream member of two closely spaced 5' splice sites. Creation of new 5' splice sites may be a general characteristic of Tc1 insertion and excision events.

Intron splice site PCR analysis as a tool to discriminate Dekkera bruxellensis strains

2010 ◽  
Vol 61 (1) ◽  
pp. 153-157 ◽  
Author(s):  
Ileana Vigentini ◽  
Claudia Picozzi ◽  
Roberto Foschino
Keyword(s):  
Splice Site ◽  
Pcr Analysis ◽  
Dekkera Bruxellensis ◽  
Intron Splice
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