First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data

Area of Science:

• Genomics
• Comparative genomics
• Animal genetics

Background:

• Copy Number Variations (CNVs) are significant genomic variants influencing phenotypes and diseases in humans and animals.
• Genome-wide investigation of CNVs in domestic cats (Felis catus) was previously lacking.
• This research is the first CNV mapping in domestic cats using Next Generation Sequencing (NGS) data from the 99 Lives Consortium.

Purpose of the Study:

• To perform the first genome-wide mapping of Copy Number Variations (CNVs) in the domestic cat.
• To characterize CNVs across 14 different cat breeds.
• To provide a foundational dataset for future studies on feline traits and diseases.

Main Methods:

• Mapping Next Generation Sequencing (NGS) reads to the Felis catus reference genome assembly_6.2.
• Utilizing cn.MOPS and CNVnator for CNV detection.
• Employing BedTools for CNV Region (CNVR) identification and annotation of genes within CNVRs.

Main Results:

• Detected 592 CNVs, forming 154 CNV Regions (CNVRs) that cover 0.26% of the cat genome.
• CNVRs comprised 129 losses, 19 gains, and 6 complex variations.
• Cluster and Principal Component Analysis revealed breed and geographical clustering of CNVRs, with 46 genes identified within these regions.

Conclusions:

• The study significantly enhances the genomic characterization of 14 domestic cat breeds.
• Provides valuable CNV information crucial for future feline trait and disease research.
• Establishes a robust starting point for genomic CNV identification in Felis catus.