Ψ SLC22A12 - Pteropus vampyrus

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_GG1ZZL Pteropus vampyrus Exon(s) deletion Full No Genomic

Statements

Type Excerpt DOI
Functional "(…) both frugivorous bats in our dataset, the black flying fox and large flying fox, have lost several genes that are specifically expressed in the kidney and are involved in renal secretion and reabsorption processes." 10.1038/s41467-018-03667-1
Methodology & Validation "For a gene to be classified as lost, we require that a lineage, which descends from an ancestor with an intact gene, exhibits several gene-inactivating mutations that most likely result in a non-functional protein. As gene-inactivating mutations, we consider frameshifting insertions and deletions, inframe stop codon mutations, and splice site-disrupting mutations. In addition, we consider the loss of exons or even entire genes, which could occur due to either large deletions in the genome or the accumulation of numerous mutations that destroy any sequence similarity. For all previously unknown gene losses presented here, we further confirmed the loss by validating the gene-inactivating mutations with unassembled sequencing reads from the respective species." 10.1038/s41467-018-03667-1
Timing of Loss "Apart from a shared deletion of the first two exons, several other shared inactivating mutations (asterisks) show that SLC22A12 loss already happened in the ancestor of both fruit bats." 10.1038/s41467-018-03667-1
Phenotypic "SLC22A12 is expressed in the apical membrane of proximal tubule cells and transports urate from the lumen into the cell in exchange for organic anions to maintain electrical balance." 10.1038/s41467-018-03667-1

Curator Observations

Sup Figure 13 & 22; Sup Table 4