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Tooth Anatomy01:21

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The human tooth enables us to eat a variety of foods, speak clearly, and even aid in shaping our faces. Teeth are composed of various elements that work together. Here's a detailed look at the anatomy of a human tooth.
The Crown, Neck, and Root
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The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Related Experiment Video

Updated: Feb 24, 2026

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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

N Dinckan1,2, R Du3, L E Petty4

  • 11 Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

Journal of Dental Research
|August 17, 2017
PubMed
Summary
This summary is machine-generated.

Genetic analysis of tooth agenesis in Turkish families identified novel gene variants, including in WNT pathway genes, and suggested complex inheritance patterns for this common craniofacial abnormality.

Keywords:
WNT signaling pathwayarray genotypinggenehypodontianext generation sequencingoligodontia

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Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Biology

Background:

  • Tooth agenesis is a frequent craniofacial abnormality.
  • Its genetic basis is complex, involving numerous genes.
  • Understanding the genetic etiology is crucial for diagnosis and treatment.

Purpose of the Study:

  • To identify genetic variants associated with tooth agenesis in multiplex Turkish families.
  • To investigate the role of WNT pathway genes and discover novel candidate genes.
  • To explore the potential for oligogenic inheritance in familial tooth agenesis.

Main Methods:

  • Whole-exome sequencing
  • Array-based genotyping
  • Linkage analysis
  • Structural modeling
  • Functional analysis of variants

Main Results:

  • Identified novel likely pathogenic variants in LRP6, DKK1, LAMA3, COL17A1, and KREMEN1 genes.
  • Confirmed known variants in WNT10A.
  • Observed variants in multiple genes segregating with tooth agenesis in some families, suggesting oligogenic inheritance.
  • Structural modeling and functional analysis indicated deleterious effects of identified variants.

Conclusions:

  • WNT pathway genes play a significant role in the etiology of tooth agenesis.
  • New candidate genes for tooth agenesis have been identified.
  • Oligogenic inheritance and complex gene interactions contribute to familial tooth agenesis, enhancing our understanding of its genetic basis.