Inactivation of C4orf26 in toothless placental mammals

Springer, Mark S.; Starrett, James; Morin, Phillip A.; Lanzetti, Agnese; Hayashi, Cheryl Y.; Gatesy, John

doi:10.1016/j.ympev.2015.11.002

Cited by 49 publications

(60 citation statements)

References 86 publications

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“…45 Phylogenetic analyses showed the presence of an intact Wdr72 gene in the Chinese pangolin and three types of baleen whales that don't make teeth, and in the aardvark, nine-banded armadillo, Hoffmann's two-toed sloth that make enamel-less teeth. 46 The observation of intact genes in these vertebrates contrasts with genes that are truly specialized for amelogenesis, which become pseudogenized in these species. 9 Recently, WDR72 defects were shown to cause AI with distal renal tubular acidosis (dRTA).…”

Section: Resultsmentioning

confidence: 99%

Mutations in RELT cause autosomal recessive amelogenesis imperfecta

et al. 2018

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Amelogenesis imperfecta (AI) is a collection of isolated (non‐syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT that is a member of the tumor necrosis factor receptor superfamily (TNFRSF). RNAscope in situ hybridization of wild‐type mouse molars and incisors showed specific Relt mRNA expression by secretory stage ameloblasts and by odontoblasts. Relt −/− mice generated by CRISPR/Cas9 exhibited incisor and molar enamel malformations. Relt −/− enamel had a rough surface and underwent rapid attrition. Normally unmineralized spaces in the deep enamel near the dentino‐enamel junction (DEJ) were as highly mineralized as the adjacent enamel, which likely altered the mechanical properties of the DEJ. Phylogenetic analyses showed the existence of selective pressure on RELT gene outside of tooth development, indicating that the human condition may be syndromic, which possibly explains the history of small stature and severe childhood infections in two of the probands. Knowing a TNFRSF member is critical during the secretory stage of enamel formation advances our understanding of amelogenesis and improves our ability to diagnose human conditions featuring enamel malformations.

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Section: Resultsmentioning

confidence: 99%

Mutations in RELT cause autosomal recessive amelogenesis imperfecta

et al. 2018

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“…However, MMP20 also appears to be a pseudogene in pygmy sperm whales (Kogia breviceps) and Hoffman's two-toed sloths (Choloepus hoffmanni), which both have teeth without enamel, implying that MMP20 is critical exclusively to enamel production. Springer et al (2015) identified inactivating mutations of a different gene C4orf26, which occurs only in toothless, but not enamel-less taxa. This pattern implies that C4orf26, unlike the other genes mentioned above, is tooth-specific but not enamel-specific; moreover, it reinforces a decoupling between the processes responsible for tooth and enamel production.…”

Section: Molecular Evidencementioning

confidence: 99%

Decoupling Tooth Loss from the Evolution of Baleen in Whales

2017

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Baleen whales, or mysticetes, include the largest vertebrates to have ever evolved. Their gigantism, evolutionary success, and ecological diversity have been linked to filter feeding. Mysticetes filter feed using elaborate keratinous baleen plates, which grow from the palate and allow them to strain large quantities of prey out of the water. While the earliest mysticetes retained the adult, mineralized teeth present in ancestral whales, all species of living baleen whales lack teeth and instead possess baleen. The mechanism by which this evolutionary transformation took place remains unknown. We present four independent, but non-exclusive hypotheses for the origin of baleen. We evaluate the support for these hypotheses based on separate lines of evidence, including paleontological, molecular, and ontogenetic data. We suggest that the origin of baleen is decoupled from the loss of teeth, with a separate morphological and genetic basis. Moreover, we outline how new fossils and phylogenetic analyses may resolve current debates about morphological transformations in tooth loss and baleen origin across the phylogeny of stem and crown Mysticeti. Additional insights will likely arise from more detailed examination of developmental and biomechanical data, with sufficient ontogenetic and phylogenetic sampling.

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“…was found to contain four fixed non-synonymous substitutions derived in the Antarctic lineages, based on the inferred ancestral state, which resulted in physicochemical changes including a hydrophobic side chain being replaced by a positively charged side chain. The keratin-associated protein encoded by the FAM83H gene is thought to be important for skin development and regulation 52,53 , through regulation of the filamentous state of keratin within cytoskeletal networks in epithelial cells, determining processes such as cell migration and polarization 54,55 . Skin regeneration is thought to be constrained in killer whales whilst inhabiting the cold waters around Antarctica due to the high cost of heat loss, and is thought to underlie rapid round-trip movements to warmer subtropical waters by Antarctic ecotypes 56 .…”

Section: Genome-wide Landscape Of Genetic Diversity and Differentiatimentioning

confidence: 99%

Genome-culture coevolution promotes rapid divergence in the killer whale

Foote¹,

Vijay²,

Ávila‐Arcos³

et al. 2016

Preprint

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The interaction between ecology, culture and genome evolution remains poorly understood. Analysing population genomic data from killer whale ecotypes, which we estimate have globally radiated within less than 250,000 years, we show that genetic structuring including the segregation of potentially functional alleles is associated with socially inherited ecological niche. Reconstruction of ancestral demographic history revealed bottlenecks during founder events, likely promoting ecological divergence and genetic drift resulting in a wide range of genome-wide differentiation between pairs of allopatric and sympatric ecotypes. Functional enrichment analyses provided evidence for regional genomic divergence associated with habitat, dietary preferences and postzygotic reproductive isolation. Our findings are consistent with expansion of small founder groups into novel niches by an initial plastic behavioural response, perpetuated by social learning imposing an altered natural selection regime. The study constitutes an important step toward an understanding of the complex interaction between demographic history, culture, ecological adaptation and evolution at the genomic level.

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Inactivation of C4orf26 in toothless placental mammals

Cited by 49 publications

References 86 publications

Mutations in RELT cause autosomal recessive amelogenesis imperfecta

Mutations in RELT cause autosomal recessive amelogenesis imperfecta

Decoupling Tooth Loss from the Evolution of Baleen in Whales

Genome-culture coevolution promotes rapid divergence in the killer whale

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