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Literature summary for 3.2.1.108 extracted from

  • Ingram, C.J.; Raga, T.O.; Tarekegn, A.; Browning, S.L.; Elamin, M.F.; Bekele, E.; Thomas, M.G.; Weale, M.E.; Bradman, N.; Swallow, D.M.
    Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic group (2009), J. Mol. Evol., 69, 579-588.
    View publication on PubMed

Application

Application Comment Organism
medicine among 107 milk-drinking Somali camel-herders from Ethiopia, eight polymorphic sites are identified in the enhancer sequence in an intron of a neighboring gene MCM6 which modulates lactase transcription in vitro. -13915*G and -13907*G are each significantly associated with lactase persistence. Allele -14009*G has borderline association with lactase persistence, but loses significance after correction for multiple testing. Sequence diversity of the enhancer is significantly higher in the lactase persistent members of this and a second cohort compared with non-persistent members of the two groups Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Source Tissue

Source Tissue Comment Organism Textmining