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PubMed · 1918194

Why yeast?

D Botstein
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Abstract

Yeast is an apparently strange "model" for the human genome, but it works because of the high degree of conservation in evolution between the primitive eukaryote and mammals. Moreover, the genic concentration in yeast--with almost no noncoding introns--packs the entire yeast genome into 16 chromosomes with only 10% of the DNA of one human chromosome.

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Genome, HumanHumansModels, GeneticYeastsJournal ArticleReview

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BibTeXRIS

D Botstein. 1991-10-15. Why yeast?. https://doi.org/10.1080/21548331.1991.11705312

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Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.

Mucopolysaccharidosis type IIID (MPS IIID; Sanfilippo syndrome type D; MIM 252940) is caused by deficiency of the activity of N-acetylglucosamine-6-sulfatase (GNS), which is normally required for degradation of heparan sulfate. The clinical features of MPS IIID include progressive neurodegeneration, with relatively mild somatic symptoms. Biochemical features include accumulation of heparan sulfate and N-acetylglucosamine-6-sulfate in the brain and viscera. To date, diagnosis required a specific lysosomal enzyme assay for GNS activity. From genomic DNA of a subject with MPS IIID, we amplified and sequenced the promoter and 14 exons of GNS. We found a homozygous nonsense mutation in exon 9 (1063C --> T), which predicted premature termination of translation (R355X). We also identified two common synonymous coding single-nucleotide polymorphisms and genotyped these in samples from four ethnic groups. This first report of a mutation in GNS resulting in MPS IIID indicates the potential utility of molecular diagnosis for this rare condition.

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