GEPHE SUMMARY
Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001714
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Homo sapiens
Trait State in Taxon B
Homo sapiens
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
human
Synonyms
human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
Rank
species
Lineage
Show more ...
opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
human
Synonyms
human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
Rank
species
Lineage
Show more ...
opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
LCT
Synonyms
LAC; LPH; LPH1
String
Sequence Similarities
Belongs to the glycosyl hydrolase 1 family.
GO - Molecular Function
GO:0008422 : beta-glucosidase activity
... show more
GO - Biological Process
GO:0005975 : carbohydrate metabolic process
... show more
GO - Cellular Component
GO:0005886 : plasma membrane
... show more
Presumptive Null
Molecular Type
Aberration Type
Molecular Details of the Mutation
T14009G (rs869051967) (ss 820486563)
Experimental Evidence
Main Reference
Authors
Jones BL; Raga TO; Liebert A; Zmarz P; Bekele E; Danielsen ET; Olsen AK; Bradman N; et al.
... show more
Abstract
The persistent expression of lactase into adulthood in humans is a recent genetic adaptation that allows the consumption of milk from other mammals after weaning. In Europe, a single allele (-13910(∗)T, rs4988235) in an upstream region that acts as an enhancer to the expression of the lactase gene LCT is responsible for lactase persistence and appears to have been under strong directional selection in the last 5,000 years, evidenced by the widespread occurrence of this allele on an extended haplotype. In Africa and the Middle East, the situation is more complicated and at least three other alleles (-13907(∗)G, rs41525747; -13915(∗)G, rs41380347; -14010(∗)C, rs145946881) in the same LCT enhancer region can cause continued lactase expression. Here we examine the LCT enhancer sequence in a large lactose-tolerance-tested Ethiopian cohort of more than 350 individuals. We show that a further SNP, -14009T>G (ss 820486563), is significantly associated with lactose-digester status, and in vitro functional tests confirm that the -14009(∗)G allele also increases expression of an LCT promoter construct. The derived alleles in the LCT enhancer region are spread through several ethnic groups, and we report a greater genetic diversity in lactose digesters than in nondigesters. By examining flanking markers to control for the effects of mutation and demography, we further describe, from empirical evidence, the signature of a soft selective sweep.
Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.
Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
EXTERNAL LINKS
COMMENTS
YOUR FEEDBACK is welcome!