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Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons
- Source :
- BMC Genomics, Vol 21, Iss 1, Pp 1-15 (2020), BMC Genomics
- Publication Year :
- 2020
- Publisher :
- Springer Science and Business Media LLC, 2020.
-
Abstract
- Background Olfactory receptor (OR) genes are the largest multi-gene family in the mammalian genome, with 874 in human and 1483 loci in mouse (including pseudogenes). The expansion of the OR gene repertoire has occurred through numerous duplication events followed by diversification, resulting in a large number of highly similar paralogous genes. These characteristics have made the annotation of the complete OR gene repertoire a complex task. Most OR genes have been predicted in silico and are typically annotated as intronless coding sequences. Results Here we have developed an expert curation pipeline to analyse and annotate every OR gene in the human and mouse reference genomes. By combining evidence from structural features, evolutionary conservation and experimental data, we have unified the annotation of these gene families, and have systematically determined the protein-coding potential of each locus. We have defined the non-coding regions of many OR genes, enabling us to generate full-length transcript models. We found that 13 human and 41 mouse OR loci have coding sequences that are split across two exons. These split OR genes are conserved across mammals, and are expressed at the same level as protein-coding OR genes with an intronless coding region. Our findings challenge the long-standing and widespread notion that the coding region of a vertebrate OR gene is contained within a single exon. Conclusions This work provides the most comprehensive curation effort of the human and mouse OR gene repertoires to date. The complete annotation has been integrated into the GENCODE reference gene set, for immediate availability to the research community.
- Subjects :
- Mouse
Receptors, Odorant
Genome
Conserved sequence
Human and rodent genomics
Mice
0302 clinical medicine
Databases, Genetic
Gene duplication
TOPOLOGY
Coding region
Conserved Sequence
Data Curation
Genetics & Heredity
0303 health sciences
EXPANSION
Exons
FAMILY
Curation
ALIGNMENT
medicine.anatomical_structure
Life Sciences & Biomedicine
Pseudogenes
Research Article
Human
Biotechnology
lcsh:QH426-470
DATABASE
Annotation
lcsh:Biotechnology
Pseudogene
Quantitative Trait Loci
Locus (genetics)
Computational biology
Biology
Olfactory receptor gene
03 medical and health sciences
lcsh:TP248.13-248.65
medicine
Genetics
Animals
Humans
Gene family
Gene
030304 developmental biology
TOOLS
Science & Technology
Olfactory receptor
Genome, Human
GENCODE
MODEL
lcsh:Genetics
Biotechnology & Applied Microbiology
Genetic Loci
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14712164
- Volume :
- 21
- Database :
- OpenAIRE
- Journal :
- BMC Genomics
- Accession number :
- edsair.doi.dedup.....5956b3d2366324cdc3c28b6ecbd0b738