rs145946881

This is a intron variant variant in the MCM6 gene.

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ClinVar annotation

Association
1 submitter2 publications

LACTASE PERSISTENCE

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Research that mentions this SNP (1)

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World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection
AssociationN=2,056Anke Liebert et al.(2017)· Human Genetics

This study examined the worldwide distribution and haplotype structure of five lactase persistence (LP)-associated variants (rs4988235, rs41525747, rs41380347, rs869051967, rs145946881) in the LCT/MCM6 region across 2056 individuals from 52 populations. The research confirmed extended haplotype homozygosity (EHH) for LP alleles consistent with positive selection, but revealed that one ancient ancestral B haplotype also shows marked EHH despite lacking functional LP variants. This extended EHH of the B haplotype corresponds exactly to a region of suppressed recombination, suggesting that recombination patterns rather than selection alone explain some haplotype signatures in this region.

Traits studied:Lactase persistenceLactose intolerance
PubMedDOIMetascience Observatory

About MCM6

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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