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A Reverse Genetic Approach to Test Functional Redundancy During Embryogenesis
Published on: August 11, 2010
Evidence for "Uner Tan Syndrome" as a human model for reverse evolution.
1Cukurova University, Medical School, Department of Physiology, Adana, Turkey. unertan@cu.edu.tr
The International Journal of Neuroscience
|December 6, 2006
Summary
Uner Tan Syndrome research in a second family reveals evidence of reverse evolution, including quadrupedality and primitive mental abilities. This suggests a single gene influences multiple traits, impacting human evolution.
Area of Science:
- Genetics
- Evolutionary Biology
- Neurology
Background:
- Uner Tan Syndrome (UTS) is a rare human genetic disorder.
- Previous studies suggested a single gene mutation as the cause.
- The syndrome is characterized by distinct physical and cognitive traits.
Purpose of the Study:
- To investigate a second family with Uner Tan Syndrome.
- To explore evidence for reverse evolution in affected individuals.
- To further elucidate the genetic and developmental underpinnings of UTS.
Main Methods:
- Clinical examination of affected individuals in a second family.
- Magnetic Resonance Imaging (MRI) to assess brain structure, particularly cerebellar atrophy.
- Behavioral observation and analysis of gait, limb ratios, and cognitive abilities.
Main Results:
- No significant cerebellar atrophy was observed, except for mild vermial atrophy in some individuals.
- Evidence supporting reverse evolution was found: habitual quadrupedality, primitive mental abilities, curved fingers during wrist-walking, and ape-like arm-to-leg ratios.
- Individuals were raised separately, ruling out socio-cultural imitation for quadrupedal gait.
Conclusions:
- The findings challenge the notion of cerebellar atrophy as the primary pathology in UTS.
- The study provides evidence for a single gene controlling multiple behavioral traits, supporting the single gene theory.
- Results align with the psychomotor theory and the co-evolution of the human mind and motor system, expressed through language.
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John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
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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 duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
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Epistasis
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...

