title: Identification of a deoxyribonucleic acid allelic variant for beta 1-4 galactosyltransferase expression associated with male sperm binding/penetration infertility.
abstract: Studies on mouse sperm-egg binding and fertilization have been suggested to involve the interaction of sperm-associated beta 1-4 galactosyltransferase with egg zona pellucida glycoproteins. A population of human males, whose sperm demonstrated an inability to penetrate ovulated zona pellucida-free hamster eggs in vitro, were examined for the level of activity of beta 1-4 galactosyltransferase. The level of enzyme activity was found to be reduced in human sperm isolated from this group of individuals compared with a known hamster penetration-positive group. Analysis of the deoxyribonucleic acid from these individuals by Southern hybridization with a putative human complementary deoxyribonucleic acid clone to beta 1-4 galactosyltransferase identified a unique allele lacking 0.8 and 0.4 kb restriction fragments on digestion with the endonuclease Taq I. These results represent the first evidence to suggest that mutations could be associated with the human gene for galactosyltransferase. Our data help to clarify one of the possible molecular mechanisms responsible for sperm-egg binding/penetration interactions.
authors.affiliation: Department of Oral Biology, University of Florida, Gainesville 32610.
authors.forename: M G
authors.initials: MG
authors.lastname: Humphreys-Beher
authors.forename: R E
authors.initials: RE
authors.lastname: Blackwell
mesh_terms: D000483:Alleles; D000818:Animals; D015139:Blotting, Southern; D002877:Chromosomes, Human / Q000032:analysis; D006224:Cricetinae; D004247:DNA / Q000032:analysis / Q000235:genetics*; D005260:Female; D005700:Galactosyltransferases / Q000032:analysis / Q000235:genetics*; D005786:Gene Expression Regulation; D014644:Genetic Variation; D006801:Humans; D007248:Infertility, Male / Q000201:enzymology / Q000235:genetics*; D008297:Male; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D013084:Sperm-Ovum Interactions; D013094:Spermatozoa / Q000201:enzymology
chemical_list: D004247:DNA; D005700:Galactosyltransferases