Structure and Variability of 5'UTR, Exon 1 and Fragment of Intron 1 of the Pax3 Gene in American Mink (Neovison vison)

Background and Aim: Myostatin (MSTN), a member of the transforming growth factor-β family, is a negative regulator of muscle mass. This study aimed to detect the genetic variation of the 1160 bp fragment of exon 1 and part of intron 1 of the MSTN gene in several cattle populations raised in Indonesia. Materials and Methods: Polymerase chain reaction products of the MSTN gene amplified from 92 animals representing 10 cattle populations (Peranakan Ongole [PO], Belgian Blue x PO cross, Rambon, PO x Bali cross, Jabres, Galekan, Sragen, Donggala, Madura, and Bali) were sequenced, compared, and aligned with bovine MSTN of Bos taurus (GenBank Acc. No. AF320998.1) and Bos indicus (GenBank Acc. No. AY794986.1). Results: Four nucleotide substitutions (nt 1045 and 1066 in intron 1; nt 262 and 418 in exon 1) and two indels (nt 807 and 869 in intron 1) were synonymous mutations. Among these substitutions, only the nt 262G>C and nt 418A>G loci were polymorphic in all populations, except Bali cattle. The frequencies of the nt 262C (0.82) and nt 418A (0.65) alleles were highest. For the nt 262G>C locus, the CC genotype had the highest frequency (0.66) followed by GC (0.30) and CC (0.03). For the nt 418A>G locus, the AG genotype had the highest frequency (0.52) followed by AA (0.39) and GG (0.09). Conclusion: The results, showing genetic variations in exon 1 and intron 1 of the MSTN gene, might be helpful for future association studies.

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Tracking Toxoplasma gondii in freshwater ecosystems: interaction with the invasive American mink (Neovison vison) in Spain

Parasitology Research ◽

10.1007/s00436-018-5916-5 ◽

2018 ◽

Vol 117 (7) ◽

pp. 2275-2281 ◽

Cited By ~ 1

Author(s):

Maria P. Ribas ◽

Sonia Almería ◽

Xavier Fernández-Aguilar ◽

Gabriel De Pedro ◽

Patricia Lizarraga ◽

...

Keyword(s):

Toxoplasma Gondii ◽

American Mink ◽

Freshwater Ecosystems ◽

Neovison Vison

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Effect of 5' splice site mutations on splicing of the preceding intron

Molecular and Cellular Biology ◽

10.1128/mcb.10.12.6299-6305.1990 ◽

1990 ◽

Vol 10 (12) ◽

pp. 6299-6305

Author(s):

M Talerico ◽

S M Berget

Keyword(s):

Splice Site ◽

Exon Skipping ◽

Splicing Factors ◽

Exon 2 ◽

Intron 1 ◽

Direct Assembly ◽

Internal Exon ◽

Exon 1 ◽

Lariat Rna

Three exon constructs containing identical intron and exon sequences were mutated at the 5' splice site beginning intron 2 and assayed for the effect of the mutation on splicing of the upstream intron in vitro. Alteration of two or six bases within the 5' splice site reduced removal of intron 1 at least 20-fold, as determined by quantitation of either spliced product or released lariat RNA. The prominent product was skip splicing of exon 1 to exon 3. Examination of complex formation indicated that mutation of the 5' splice site terminating exon 2 depressed the ability of precursor RNAs containing just the affected exon to direct assembly in vitro. These results suggest that mutation at the end of an internal exon inhibits the ability of the exon to be recognized by splicing factors. A comparison of the known vertebrate 5' splice site mutations in which the mutation resides at the end of an internal exon indicated that exon skipping is the preferred phenotype for this type of mutation, in agreement with the in vitro observation reported here. Inhibition of splicing by mutation at the distal and of the exon supports the suggestion that exons, rather than splice sites, are the recognition units for assembly of the spliceosome.

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N-myc mRNA forms an RNA-RNA duplex with endogenous antisense transcripts

Molecular and Cellular Biology ◽

10.1128/mcb.10.8.4180-4191.1990 ◽

1990 ◽

Vol 10 (8) ◽

pp. 4180-4191

Author(s):

G W Krystal ◽

B C Armstrong ◽

J F Battey

Keyword(s):

Rna Polymerase Ii ◽

Antisense Transcription ◽

Initiation Site ◽

Antisense Transcripts ◽

Rnase Protection ◽

Transcriptional Initiation ◽

Intron 1 ◽

Exon 1 ◽

Duplex Formation

Nuclear runoff transcription studies revealed nearly equivalent sense and antisense transcription across exon 1 of the N-myc locus. Antisense primary transcription initiates at multiple sites in intron 1 and gives rise to stable polyadenylated and nonpolyadenylated transcripts. This pattern of antisense transcription, which is directed by RNA polymerase II, is independent of gene amplification and cell type. The nonpolyadenylated antisense transcripts have 5' ends which are complementary to the 5' ends of the N-myc sense mRNA. We determined, by using an RNase protection technique designed to detect in vivo duplexes, that most of the cytoplasmic nonpolyadenylated antisense RNA exists in an RNA-RNA duplex with approximately 5% of the sense N-myc mRNA. Duplex formation appeared to occur with only a subset of the multiple forms of the N-myc mRNA, with the precise transcriptional initiation site of the RNA playing a role in determining this selectivity. Cloning of each strand of the RNA-RNA duplex revealed that most duplexes included both exon 1 and intron 1 sequences, suggesting that duplex formation could modulate RNA processing by preserving a population of N-myc mRNA which retains intron 1.

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The PVT gene frequently amplifies with MYC in tumor cells

Molecular and Cellular Biology ◽

10.1128/mcb.9.3.1148-1154.1989 ◽

1989 ◽

Vol 9 (3) ◽

pp. 1148-1154

Author(s):

E Shtivelman ◽

J M Bishop

Keyword(s):

Tumor Cells ◽

Colon Carcinoma ◽

Cell Lines ◽

Human Colon ◽

Carcinoma Cells ◽

Colon Carcinoma Cells ◽

Human Colon Carcinoma ◽

Intron 1 ◽

Exon 1 ◽

Additional Portion

The line of human colon carcinoma cells known as COLO320-DM contains an amplified and abnormal allele of the proto-oncogene MYC (DMMYC). Exon 1 and most of intron 1 of MYC have been displaced from DMMYC by a rearrangement of DNA. The RNA transcribed from DMMYC is a chimera that begins with an ectopic sequence of 176 nucleotides and then continues with exons 2 and 3 of MYC. The template for the ectopic sequence represents exon 1 of a gene known as PVT, which lies 50 kilobase pairs downstream of MYC. We encountered three abnormal configurations of MYC and PVT in the cell lines analyzed here: (i) amplification of the genes, accompanied by insertion of exon 1 and an undetermined additional portion of PVT within intron 1 of MYC to create DMMYC; (ii) selective deletion of exon 1 of PVT from amplified DNA that contains downstream portions of PVT and an intact allele of MYC; and (iii) coamplification of MYC and exon 1 of PVT, but not of downstream portions of PVT. We conclude that part or all of PVT is frequently amplified with MYC and that intron 1 of PVT represents a preferred boundary for amplification affecting MYC.

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