PMID: 7543318Apr 1, 1995Paper

The lactase persistence/non-persistence polymorphism is controlled by a cis-acting element

Human Molecular Genetics
Y WangD M Swallow

Abstract

Lactase activity is present at high levels in the small intestine of some human adults and not others. This is due to a genetically determined polymorphism which affects the developmental regulation of the expression of the lactase gene. This polymorphism is of considerable interest in relation to cultural differences in nutrition but despite exhaustive studies, the molecular basis has not yet been found. It has not even been shown whether the sequence differences reside within or adjacent to the lactase gene itself or in a trans-acting factor. We have therefore exploited known DNA 'marker' polymorphisms within the exons of the lactase gene to examine the expression of the individual lactase mRNA transcripts from persistent and non-persistent individuals in order to determine whether the regulation is in cis or trans. Our results show that in certain lactase persistent individuals one allele of the lactase gene is expressed at much lower levels than the other and these individuals tend to have intermediate lactase activities. It is proposed that these people are heterozygous for the lactase persistence and non-persistence alleles and that this means that the nucleotide substitutions responsible for the lactase persistence/non-p...Continue Reading

Citations

Nov 27, 2008·Human Genetics·Catherine J E IngramDallas M Swallow
Mar 22, 2005·Biochimica Et Biophysica Acta·Jesper T Troelsen
May 11, 2012·Journal of Human Genetics·Min-Sheng PengYa-Ping Zhang
Dec 13, 2006·Nature Genetics·Sarah A TishkoffPanos Deloukas
Dec 4, 2009·The Journal of Biological Chemistry·Marc BehrendtHassan Y Naim
Aug 6, 2008·Human Molecular Genetics·Layla Parker-KatiraeeStephen W Scherer
Feb 11, 2005·Current Opinion in Gastroenterology·Eric Sibley
Aug 4, 2004·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·Eric Sibley
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Jun 3, 1998·Gastroenterology·Y WangD M Swallow
Nov 30, 2000·American Journal of Human Genetics·E J HolloxD M Swallow
Nov 18, 2003·Annual Review of Genetics·Dallas M Swallow
Jul 27, 2007·Clinica Chimica Acta; International Journal of Clinical Chemistry·Ralf WeiskirchenDallas M Swallow
Feb 19, 2013·Cell·Sharon R GrossmanPardis C Sabeti
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Jan 16, 2004·Gastroenterology·Jesper T TroelsenHans Sjöström

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