Molecular evolutionary analyses of tooth genes support sequential loss of enamel and teeth in baleen whales (Mysticeti)

Randall, Jason G.; Gatesy, John; Springer, Mark S.

doi:10.1016/j.ympev.2022.107463

Cited by 16 publications

(29 citation statements)

References 104 publications

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“…However, the ACP4 null allele, c.774_775del, we report here strongly indicates that human ACP4 is only critical for tooth development, as none of the affected individuals in Family 1 showed clinically-detectable nondental abnormalities. This notion is further supported by a recent finding that ACP4 is inactivated in multiple lineages of toothless or enamelless mammals 36 , 37 . Therefore, it can be reasonably concluded that ACP4 , while expressed in nondental tissues, serves critical functions only in teeth.…”

Section: Discussionsupporting

confidence: 58%

“…Identification of ACP4 mutations causing enamel malformations not only indicates a critical role for ACP4 in enamel formation but suggests that it might be the unidentified ACP2-like acid phosphatase found in ameloblasts. More recently, it has been shown that ACP4 serves an indispensable function only during tooth development, particularly enamel formation, as the gene is pseudogenized in mammals that have lost the ability to make teeth, or enamel, during evolution 36 , 37 .…”

Section: Introductionmentioning

confidence: 99%

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Enamel defects in Acp4R110C/R110C mice and human ACP4 mutations

Liang

Wang

Smith

et al. 2022

Sci Rep

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Human ACP4 (OMIM*606362) encodes a transmembrane protein that belongs to histidine acid phosphatase (ACP) family. Recessive mutations in ACP4 cause non-syndromic hypoplastic amelogenesis imperfecta (AI1J, OMIM#617297). While ACP activity has long been detected in developing teeth, its functions during tooth development and the pathogenesis of ACP4-associated AI remain largely unknown. Here, we characterized 2 AI1J families and identified a novel ACP4 disease-causing mutation: c.774_775del, p.Gly260Aspfs*29. To investigate the role of ACP4 during amelogenesis, we generated and characterized Acp4R110C mice that carry the p.(Arg110Cys) loss-of-function mutation. Mouse Acp4 expression was the strongest at secretory stage ameloblasts, and the protein localized primarily at Tomes’ processes. While Acp4 heterozygous (Acp4+/R110C) mice showed no phenotypes, incisors and molars of homozygous (Acp4R110C/R110C) mice exhibited a thin layer of aplastic enamel with numerous ectopic mineralized nodules. Acp4R110C/R110C ameloblasts appeared normal initially but underwent pathology at mid-way of secretory stage. Ultrastructurally, sporadic enamel ribbons grew on mineralized dentin but failed to elongate, and aberrant needle-like crystals formed instead. Globs of organic matrix accumulated by the distal membranes of defective Tomes’ processes. These results demonstrated a critical role for ACP4 in appositional growth of dental enamel probably by processing and regulating enamel matrix proteins around mineralization front apparatus.

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Section: Discussionsupporting

confidence: 58%

Section: Introductionmentioning

confidence: 99%

Enamel defects in Acp4R110C/R110C mice and human ACP4 mutations

Liang

Wang

Smith

et al. 2022

Sci Rep

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“…The extant mysticetes have evolved to be filter feeders, with no teeth in adults, and replaced by baleen, although their ancestors own functional dentitions (Peredo et al 2018). Recent studies showed that some enamel-related genes (ACP4, AMBN, AMELX, AMTN, ENAM, KLK4, and MMP20) had inactivated in multiple branches of the mysticete phylogenetic tree, which were associated with the loss of their enamel (Mu et al 2021a;Randall et al 2022). Simultaneously, most extant odontocetes evolve simplistically into homomorphic teeth, and the tooth number varies considerably in different species (Jefferson et al 2011;Berkovitz & Shellis 2018).…”

Section: Introductionmentioning

confidence: 99%

“…The functions of these two genes were related to simpler anterior teeth morphology and the complex cheek teeth morphology, respectively (Armfield et al 2013). The genus Kogia in Odontoceti also owned enamel-less teeth, which was likely due to the inactivation of ACP4, AMBN, ENAM, and MMP20 (Mu et al 2021a;Randall et al 2022). Furthermore, the ODAM is also inactivated in all odontocetes (Springer et al 2019;Mu et al 2021b).…”

Section: Introductionmentioning

confidence: 99%

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The rough‐toothed dolphin genome provides new insights into the genetic mechanism of its rough teeth

et al. 2023

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The rough‐toothed dolphin (Steno bredanensis) is characterized by having teeth covered in finely wrinkled vertical ridges, which is a general manifestation of amelogenesis imperfecta. The rough surfaces are hypothesized to be an evolutionary morphological trait of feeding adaptation to increase the dolphin's grip on prey. Here, we assembled a rough‐toothed dolphin genome and performed the comparative genomic analysis to reveal the genetic basis of the special enamel. Results showed that genes related to enamel development or dental diseases have undergone diversified adaptive changes that may shape the special enamel morphology of this dolphin species, including positive selection (CLDN19, PRKCE, SSUH2, and WDR72), rapid evolution (LAMB3), or unique amino acid substitutions (AMTN, ENAM, MMP20, and KLK4). Meanwhile, the historical demography of rough‐toothed dolphin indicated several distinct population fluctuations associated with climate change. The genome‐wide heterozygosity of this dolphin is in the middle of all published data for cetaceans. Although the population is considerable, there may be population or subspecies differentiation, and with the global warming and the increasing disturbance of human activities, we should pay more attention to protection in the future. Together, our study brings new insights into the genetic mechanisms that may have driven the evolution of the special enamel morphology in rough‐toothed dolphins and provides the first results of genetic heterozygosity and population historical dynamics of this species, which have important guiding implications for the conservation of this dolphin species.

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