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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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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Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...
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Focusing of Light in the Eye

Light rays enter the eye through the cornea, a transparent dome-shaped tissue that is the eye's outermost layer. The cornea bends or refracts, light rays traveling to the pupil. The shape of the cornea determines how much of the light is bent and whether the image will be focused correctly on the retina at the back of the eye. Once the light has passed through both refraction layers, it converges into a single focal point onto a small area. This is where photoreceptors start transforming...
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...
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Related Experiment Video

Updated: Jul 11, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

PAX6 mutations may be associated with high myopia.

Alex W Hewitt1, Lisa S Kearns, Robyn V Jamieson

  • 1Department of Ophthalmology, Flinders University, Adelaide, Australia.

Ophthalmic Genetics
|September 27, 2007
PubMed
Summary
This summary is machine-generated.

Mutations in the PAX6 gene, crucial for eye development, are linked to severe refractive errors. This study explores the association between specific PAX6 mutations and myopia in Australian families.

Related Experiment Videos

Last Updated: Jul 11, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

  • Genetics
  • Ophthalmology
  • Developmental Biology

Background:

  • The PAX6 gene is essential for ocular development, with mutations causing various ophthalmic conditions.
  • Specific PAX6 mutations are associated with phenotypes ranging from aniridia to refractive errors like myopia.
  • Previous studies suggest a role for PAX6 in normal myopia variation.

Purpose of the Study:

  • To investigate the association between identified PAX6 mutations and refractive error in Australian patients.
  • To determine if specific PAX6 mutations correlate with the severity of refractive error, particularly myopia.

Main Methods:

  • Analysis of PAX6 gene mutations in four Australian pedigrees.
  • Assessment of refractive error, specifically mean spherical equivalence, in individuals with identified PAX6 mutations.
  • Correlation of specific mutation types (e.g., 1410delC, Arg240Stop, Glu93Stop, Pro346Ala) with refractive error severity.

Main Results:

  • Individuals with a 1410delC PAX6 mutation showed a mean spherical equivalence below -9D.
  • Subjects with Arg240Stop and Glu93Stop mutations exhibited mean spherical equivalence of -5D or less.
  • One patient with a Pro346Ala PAX6 mutation presented with a mean spherical equivalence of +2.8D.

Conclusions:

  • The findings support the association between PAX6 mutations, especially predicted haploinsufficiency, and extreme refractive errors.
  • While the link between PAX6 mutations and severe myopia is suggested, the underlying mechanism remains unclear.