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Related Concept Videos

Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Laminins are the Adhesive Proteins of Basal Lamina00:55

Laminins are the Adhesive Proteins of Basal Lamina

Laminins are heterotrimeric proteins with high molecular mass found in the extracellular matrix. Each laminin molecule is composed of three chains, viz. alpha, beta, and gamma, coded by five, four, and three paralogous genes, respectively. Laminins are categories based on the compositions of the three chains.
In humans, the five forms of alpha chains are LAMA 1, LAMA 2, LAMA 3, LAMA 4, and LAMA 5. The four forms of beta chains are LAMB 1, LAMB 2, LAMB 3, and LAMB 4. The three forms of gamma...
Incomplete Dominance01:43

Incomplete Dominance

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.
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

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Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
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LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.

J W Kim1, F Seymen, K E Lee

  • 1Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea.

Journal of Dental Research
|August 21, 2013
PubMed
Summary
This summary is machine-generated.

Novel mutations in LAMB3 cause autosomal-dominant amelogenesis imperfecta (ADAI), a severe enamel defect. This finding links syndromic and non-syndromic forms of AI, highlighting enamel

Keywords:
basement membranedental enamelgenetic diseasesjunctional epidermolysis bullosatooth

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Area of Science:

  • Genetics
  • Oral Biology
  • Dermatology

Background:

  • Amelogenesis imperfecta (AI) presents as isolated or syndromic forms.
  • Junctional epidermolysis bullosa (JEB) is a recessive disorder often featuring AI and skin fragility, linked to mutations in genes like COL17A1, LAMA3, LAMB3, or LAMC2.
  • Rarely, JEB carriers exhibit isolated AI without skin issues.

Purpose of the Study:

  • Investigate the genetic basis of autosomal-dominant amelogenesis imperfecta (ADAI) in two families.
  • Identify novel mutations responsible for severe enamel hypoplasia in ADAI kindreds.

Main Methods:

  • Recruited two families with autosomal-dominant amelogenesis imperfecta (ADAI).
  • Performed whole-exome sequencing on probands to identify genetic mutations.
  • Analyzed mutation segregation with enamel defects within families.

Main Results:

  • Identified novel heterozygous mutations in the final exon of the LAMB3 gene in both families.
  • Observed mutations leading to protein truncation: an 8-bp deletion (p.Gly1149Glufs*8) in Family 1 and a nonsense mutation (p.Ser1144*) in Family 2.
  • Confirmed perfect segregation of these LAMB3 mutations with severe enamel hypoplasia in both kindreds.

Conclusions:

  • Enamel formation is highly sensitive to disruptions in hemidesmosome/basement-membrane complexes.
  • Autosomal-dominant amelogenesis imperfecta (ADAI) can result from LAMB3 mutations.
  • Syndromic and non-syndromic forms of AI share potential etiological links through basement membrane component genes.