scholarly journals Could one splicing-site single nucleotide polymorphism cause the MODY2 disease?

2015 ◽  
Vol 7 (S1) ◽  
Author(s):  
Simone Brüggemann Mota ◽  
Francisco Geraldo Mello da Rocha Carvalho Neto ◽  
Danielle Rachel dos Santos Carvalho ◽  
Deborah Laredo Jezini ◽  
Tetsuo Yamane ◽  
...  
2021 ◽  
Vol 288 (1963) ◽  
Author(s):  
Bin Fan ◽  
Dizhi Xie ◽  
Yanwei Li ◽  
Xulei Wang ◽  
Xin Qi ◽  
...  

Teleosts show varied master sex determining (MSD) genes and sex determination (SD) mechanisms, with frequent turnovers of sex chromosomes. Tracing the origins of MSD genes and turnovers of sex chromosomes in a taxonomic group is of particular interest in evolutionary biology. Oyster pompano ( Trachinotus anak ), a marine fish, belongs to the family Carangidae, in which 17b-hydroxysteroid dehydrogenase 1 ( hsd17b1 ) has repeatedly evolved to an MSD gene. Whole-genome resequencing identified a single nucleotide polymorphism (SNP) at chromosome 24 to be strictly associated with phenotypic sex, with females being the heterozygous sex. This SNP is located in a splicing site at the first exon/intron boundary of hsd17b1 . The Z-linked SNP results in malfunction of all spliced isoforms, whereas the W-linked isoforms were predicted to have open reading frames that are conserved among vertebrates, suggesting that hsd17b1 is a female-determining gene. The differential alternative splicing patterns of ZZ and ZW genotypes were consistently observed both in undifferentiated stages and differentiated gonads. We observed elevated recombination around the SD locus and no differentiation between Z and W chromosomes. The extreme diversity of mutational mechanisms that hsd17b1 evolves to an MSD gene highlights frequent in situ turnovers between sex chromosomes in the Carangidae.


Author(s):  
Dương Thanh Thủy ◽  
Taiichiro Ookawa

The sensory and functional properties of rice are predominantly associated with its amylose content. Granule-bound starch synthase (GBSS) encoded by the Waxy (Wx) gene determines the synthesis of amylose, while starch branching enzymes encoded by Sbe genes are involved in the formation of amylopectin. Some studies have demonstrated that Wx gene is the major controller of amylose content but there are one or more modifying genes affecting the amylose content. Three markers,  microsatellite, Single – nucleotide – polymorphism (G/T SNP) in Wx gene and Single – nucleotide – polymorphism (T/C SNP) in Sbe1 gene, were tested for their association with amylose content using sixty-nine  rice accessions from twenty countries. Of the three markers, two markers in Wx gene are significantly associated with amylose content. The combination of two markers in Wx gene (haplotypes) explained 83.8% of the variation in amylose content and discriminated the three market classes of glutinous, low, intermediate and high amylose content of rice from each other. And T/C SNP in Sbe1 locus was not a suitable marker for amylose content. Keywords: marker, amylose content, Waxy gene.


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