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Published on: June 3, 2018
Quantitative trait loci associated with murine central corneal thickness
Geoffrey D Lively1, Demelza Koehn, Adam Hedberg-Buenz
1Department of Molecular Physiology and Biophysics, University of Iowa, Iowa City, IA 52242, USA.
Physiological Genomics
|April 29, 2010
Summary
Genetic factors significantly influence central corneal thickness (CCT) in mice. A key region on chromosome 7 was identified, impacting CCT and potentially glaucoma risk.
Area of Science:
- Ophthalmology
- Genetics
- Animal Models
Background:
- The cornea is vital for vision, with central corneal thickness (CCT) showing significant heritability.
- Variations in CCT are linked to glaucoma risk, yet the underlying genes are unknown.
Purpose of the Study:
- To investigate the genetic basis of central corneal thickness (CCT) variability.
- To identify genetic loci regulating CCT in mice.
Main Methods:
- Genome-wide quantitative trait locus (QTL) analysis was performed in (C57BLKS/J x SJL/J) F(2) mice.
- Independent validation using (C57BLKS/J x NZB/B1NJ) F(2) mice and congenic strains.
Main Results:
- A significant QTL, Cctq1, associated with CCT was identified on mouse chromosome 7.
- Further analysis confirmed a significant association on chromosome 7 at a different locus.
- Congenic mice with an SJL-derived chromosome 7 segment exhibited increased CCT.
Conclusions:
- Central corneal thickness (CCT) is a multigenic trait in mice.
- A specific region on chromosome 7 plays a significant role in regulating CCT.
- Identifying these QTL genes will enhance understanding of CCT regulation and glaucoma pathophysiology.
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X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

