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. 2022 Apr 8;23(1):26.
doi: 10.1186/s12863-022-01038-w.

Deep whole-genome resequencing sheds light on the distribution and effect of amphioxus SNPs

Affiliations

Deep whole-genome resequencing sheds light on the distribution and effect of amphioxus SNPs

Yunchi Zhu et al. BMC Genom Data. .

Abstract

Background: Amphioxus is a model organism for vertebrate evolutionary research. The significant contrast between morphological phenotypic similarity and high-level genetic polymorphism among amphioxus populations has aroused scientists' attention. Here we resequenced 21 amphioxus genomes to over 100X depth and mapped them to a haploid reference.

Results: More than 11.5 million common SNPs were detected in the amphioxus population, which mainly affect genes enriched in ion transport, signal transduction and cell adhesion, while protein structure analysis via AlphaFold2 revealed that these SNPs fail to bring effective structural variants.

Conclusions: Our work provides explanation for "amphioxus polymorphism paradox" in a micro view, and generates an enhanced genomic dataset for amphioxus research.

Keywords: AlphaFold2; Amphioxus; SNP; Whole-genome resequencing.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Distribution and effect of B. belcheri SNPs. a SNP distribution in B. belcheri chromosomes. Each portion of chromosome is 1 Mbp. b Statistics of SNPs detected in each type of genomic region. c Statistics of SNPs causing each variant type. Variant types are described by Sequence Ontology terms
Fig. 2
Fig. 2
GO enrichment results of top-1000 genes with largest number of intron variants, synonymous variants, and missense variants. Enrichment plots are generated with categories marked by colour and statistical significance (PPDE = 1 – P value) marked by transparency. PPDE legend displays the gradient of transparency
Fig. 3
Fig. 3
Results of pN/pS analysis. a Distribution of pN/pS ratios of genes with a minimum of five synonymous SNPs. b KEGG enrichment results of genes with pN/pS > 1.5. KEGG.M, KEGG.CP, KEGG.EIP, KEGG.OS are short for metabolism, cellular processes, environmental information processing and organismal systems in KEGG. Enrichment plots are generated with categories marked by colour and statistical significance (PPDE = 1 – P value) marked by transparency. PPDE legend displays the gradient of transparency
Fig. 4
Fig. 4
Examples of protein structure variation brought by SNPs. For each example, raw SNP-absent structure is marked by green and SNP-present structure is marked by blue. SNPs are located in the red-squared regions. Structures with SNPs are aligned to original structures for comparison, where overlapping green–blue regions can be recognized as unchanged

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