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

  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},
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


Publications citing this paper.


Publications referenced by this paper.
Showing 1-10 of 34 references

Arylsul - fatase A pseudodeficiency - associated mutations : population studies and identification of a novel haplotype

N Shen, ZG Li, J Waye, G Francis, PL Chang
Am J Med Genet • 1996

Arylsulfatase A pseudodeficiency and the dopamine receptor D 4 polymorphism : genetic risk factors for psychiatric disorders in Europeans

J Cochrane, Stralen J van, +8 authors PL Chang
Clin Chem • 1996

Mini - satellite diversity supports a recent African origin for modern humans

Armour JAL, T Anttinen, +7 authors AJ Jeffreys
Nat Genet • 1996

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy

MH Ricketts, D Goldman, JC Long, P Manowitz
J Med Genet • 1996

Lysosomal storage diseases.

Biochimica et biophysica acta • 1995

Molecular genetics of speciation and human origins.

Proceedings of the National Academy of Sciences of the United States of America • 1994

Similar Papers

Loading similar papers…