Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency

@article{Ott1997EvolutionaryOO,
  title={Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency},
  author={Rebecca Ott and John S. Waye and Patricia L. Y. Chang},
  journal={Human Genetics},
  year={1997},
  volume={101},
  pages={135-140}
}
Deficient arylsulfatase A activity causes the neurodegenerative disease metachromatic leukodystrophy. However, some individuals with deficient enzyme activity appear clinically normal. This “pseudodeficiency” allele commonly found among many reported populations (frequency ∼ 0.10) is associated with two A→G transitions in cis in the arylsulfatase A gene causing the simultaneous loss of an N-glycosylation and a polyadenylation signal. To understand the evolutionary relationship between such… CONTINUE READING

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