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An Sdhd targeting construct was designed in which the major coding exon of Sdhd, exon 3, was deleted and replaced with the betaGeo selection-reporter cassette (Figure 1A).
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We assume that the late recognition of a major novel coding exon in a gene which has been intensely studied since its discovery thirteen years ago [ 6, 8] is due to the predominance of the mouse as the model organism and the ablation of SBS1'-encoding exon 11b in the murid lineage.
Its coding gene has two exons, and the major coding region is in the second exon [ 5].
Notably, a SNP with MAF > 0.25 is located at the largest coding exon of FATS, which is responsible for the major function of FATS protein [ 10– 10].
The principal finding of our study is that mouse Zfy1 and human ZFY produce a previously unknown major splice variant in the testis that results in the exclusion of the large second coding exon (exon 6 in Zfy1) that represents a quarter of the full-length ZFY protein and a half of the acidic domain.
Lower panel: The coding exon arrangement of the human aggrecan gene is depicted and the regions of the core protein encoded by each exon is indicated.
Its promoter lies within intron 44 and first coding exon is exon 51.
The main coding exon of Sdhd, exon 3, was replaced by the betaGeo-IRES-cassette.
Homologous recombination resulted in the deletion of coding exon 2 of Tph1 and coding exons 1 and 2 of Tph2.
These would contain a 5'UTR with at least the untranslated exon -1 and the coding exon 1, but without any of the other coding exons.
The first coding exon is missing from Meg10 and Meg8.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com