Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta

Smith, Claire E. L.; Murillo, Gina; Brookes, Steven J.; Poulter, James A.; Silva, Sandra; Kirkham, Jennifer; Inglehearn, Chris F.; Mighell, Alan J.

doi:10.1093/hmg/ddw203

Cited by 42 publications

(28 citation statements)

References 52 publications

(67 reference statements)

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“…Methods for recording enamel hypoplasia vary among studies. Most researchers record and compare LEH frequencies (e.g., Guatelli-Steinberg, 2004;Miszkiewicz, 2015;Smith et al, 2016). Others include all defects (e.g., Goodman et al, 1980Goodman et al, , 1984Goodman & Armelagos, 1985;Ogilvie et al, 1989).…”

Section: Introductionmentioning

confidence: 99%

A probable genetic origin for pitting enamel hypoplasia on the molars of Paranthropus robustus

Towle

2019

Journal of Human Evolution

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We report the frequencies of linear enamel hypoplasia (LEH) and, specifically, pitting enamel hypoplasia (PEH) defects in the teeth of Paranthropus robustus, for comparison with four other South African hominin species and three extant nonhuman primate species. Unlike LEH, the lesser known PEH is characterized by multiple circular depression defects across a tooth crown and is often difficult to interpret in terms of developmental timing and etiology. Teeth in all samples were examined macroscopically with type, position and number of defects recorded. Frequencies of teeth with LEH vary among hominin species, but the differences in PEH are considerable. That is, P. robustus has much higher rates of pitting defects, with 47% of deciduous teeth and 14% of permanent teeth affected, relative to 6.7% and 4.3%, respectively, for all other hominin teeth combined; none of the extant primate samples evidence comparable rates. The defects on P. robustus molars are unlike those in other species, with entire crowns often covered in small circular depressions. The PEH is most consistent with modern human examples of amelogenesis imperfecta. Additionally, the defects are: 1) not found on anterior teeth, 2) uniform in shape and size, and 3) similar in appearance/severity on all molars. A possible reason for this form of PEH is as a side effect of selection on another phenotype that shares the same coding gene(s), i.e., a genetic origin. Recent research on the ENAM gene provides one such possibility. Paranthropus likely underwent rapid evolution in the ENAM loci, with changes in this gene contributing to larger posterior teeth and thicker enamel. This same gene is associated with amelogenesis imperfecta; therefore, pleiotropy effects, relating to high selection on this gene during Paranthropus evolution, could have yielded this unique condition.

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Section: Introductionmentioning

confidence: 99%

A probable genetic origin for pitting enamel hypoplasia on the molars of Paranthropus robustus

Towle

2019

Journal of Human Evolution

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“…This protein has been recently identified as another, less abundant enamel matrix protein expressed during the maturation stage of amelogenesis and was proposed to promote hydroxyapatite precipitation [ 13 , 41 ]. As for AMBN, amelotin knock-out mice show enamel defects and deletion of exons 3–6 in the AMTN gene has been associated with AI in a Costa Rica family [ 41 ]. Two AMTN amino acid changes (R171H, A200V) were detected in the Denisova individual only and may form a haplotype characteristic of this lineage.…”

Section: Resultsmentioning

confidence: 99%

Neanderthal and Denisova tooth protein variants in present-day humans

et al. 2017

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Environment parameters, diet and genetic factors interact to shape tooth morphostructure. In the human lineage, archaic and modern hominins show differences in dental traits, including enamel thickness, but variability also exists among living populations. Several polymorphisms, in particular in the non-collagenous extracellular matrix proteins of the tooth hard tissues, like enamelin, are involved in dental structure variation and defects and may be associated with dental disorders or susceptibility to caries. To gain insights into the relationships between tooth protein polymorphisms and dental structural morphology and defects, we searched for non-synonymous polymorphisms in tooth proteins from Neanderthal and Denisova hominins. The objective was to identify archaic-specific missense variants that may explain the dental morphostructural variability between extinct and modern humans, and to explore their putative impact on present-day dental phenotypes. Thirteen non-collagenous extracellular matrix proteins specific to hard dental tissues have been selected, searched in the publicly available sequence databases of Neanderthal and Denisova individuals and compared with modern human genome data. A total of 16 non-synonymous polymorphisms were identified in 6 proteins (ameloblastin, amelotin, cementum protein 1, dentin matrix acidic phosphoprotein 1, enamelin and matrix Gla protein). Most of them are encoded by dentin and enamel genes located on chromosome 4, previously reported to show signs of archaic introgression within Africa. Among the variants shared with modern humans, two are ancestral (common with apes) and one is the derived enamelin major variant, T648I (rs7671281), associated with a thinner enamel and specific to the Homo lineage. All the others are specific to Neanderthals and Denisova, and are found at a very low frequency in modern Africans or East and South Asians, suggesting that they may be related to particular dental traits or disease susceptibility in these populations. This modern regional distribution of archaic dental polymorphisms may reflect persistence of archaic variants in some populations and may contribute in part to the geographic dental variations described in modern humans.

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“…Tablo 3: Gen ve Fenotip İlişkili Amelogenesis İmperfekta Sınıflandırması. (Neville et al, 2015;Seow, 2014;Nowak et al, 2019;Zhang et al, 2019;Wright et al, 2011;Witkop et al, 1976;Chosack et al, 1979;Poulter et al, 2014;Wang et al, 2013;Kim et al, 2005;Parry et al, 2012;Mendoza et al, 2007;Smith et al, 2016;…”

Section: Alkaptanüriunclassified

Developmental Defects of Enamel Tissue from Etiology to Minimally Invasive Treatment Procedures

Berkman¹,

Tuncer²,

Karabay³

et al. 2020

JSTR

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The development process of tissue and organs in the living body is managed by genetic components and is affected by systemic diseases or environmental factors such as trauma, chemicals and radiation. Depending on the development phase that these factors occur, conditions such as deviations from normal growth and development, and the disruptions of tissue quantity and quality may occur. Disruption of the normal functioning of the amelogenesis steps for various reasons causes defections of enamel matrix formation, resorption, and subsequent calcification process. Clinically, this situation appears as defects characterized by features ranging from diffuse opacities to the complete absence of tooth enamel. Developmental enamel defects, the prevalence of which varies between 10% and 80%, cause problems that negatively affect individuals' quality of life, such as aesthetic problems, hypersensitivity, rapidly progressing caries, and tooth tissue loss. The aim of this study was to investigate the developmental enamel defects, their relationship with the development stages of the enamel, the etiological factors, in the light of current information. Clinical management of these defects and rehabilitation with minimally invasive approaches were evaluated with exemplary cases.

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Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta

Cited by 42 publications

References 52 publications

A probable genetic origin for pitting enamel hypoplasia on the molars of Paranthropus robustus

A probable genetic origin for pitting enamel hypoplasia on the molars of Paranthropus robustus

Neanderthal and Denisova tooth protein variants in present-day humans

Developmental Defects of Enamel Tissue from Etiology to Minimally Invasive Treatment Procedures

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