Molecular characterization of the equine AEG1 locus.
Abstract: Acidic epididymal glycoprotein 1 (AEG1), also called cysteine-rich secretory protein 1 (CRISP1), is a member of the CRISP protein family which is characterized by 16 conserved cysteine residues at the C-terminus. The CRISP proteins are expressed in the male genital tract and are thought to be involved in sperm-egg fusion. Therefore, their genes are of interest as candidate genes for inherited male fertility dysfunctions and as putative quantitative trait loci for male fertility traits. In this report, the cloning and DNA sequence of 90 kb of horse genomic DNA from equine chromosome 20q22 containing the complete equine AEG1 gene are described. The equine AEG1 gene consists of eight exons spanning 31 kb. Analysis of equine AEG1 transcripts did not reveal any evidence for alternative splicing, however three different transcription start sites are used. The first transcription start site is located 20 nt downstream of a TATA box motif. Reverse transcription polymerase chain reaction analysis demonstrated that AEG1 is expressed in different parts of the epididymis, whereas it is hardly detectable in the testis. The naturally occurring diversity of the equine AEG1 gene in different horse breeds was investigated and several polymorphisms are reported, including one that affects the amino acid sequence. Finally, sequence comparisons revealed that the intronless equine PGK2 gene for the testis-specific phosphoglycerate kinase is located approximately 39 kb downstream of AEG1.
Publication Date: 2002-07-18 PubMed ID: 12119100DOI: 10.1016/s0378-1119(02)00673-xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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This research characterizes the AEG1 gene in horses, which is associated with male fertility. This gene, also known as Acidic epididymal glycoprotein 1 or cysteine-rich secretory protein 1, is part of the CRISP protein family and plays a role in sperm-egg fusion. The research describes the gene structure, its expression in different parts of the genital tract, and genetic variations in different horse breeds.
Molecular characterization of the AEG1 gene
- The researchers mapped out the AEG1 gene, which exists on equine chromosome 20q22, by cloning and sequencing a 90-kilobase segment of horse genomic DNA which contains the complete gene.
- The AEG1 gene consists of eight exons, genetic sequences that contain the instructions for protein synthesis, spread across a 31 kilobase region.
Analyzing AEG1 gene transcripts
- Experiments were conducted to understand the processing of the AEG1 gene transcript. It was found that all gene copies are processed into protein in the same way; no evidence of alternative gene splicing was discovered.
- Interestingly, the gene transcript can start at three different sites. The first transcription start site is located 20 nucleotides downstream of a DNA sequence called the TATA box motif, which is known to signal the start of a gene.
Expression and variation of the AEG1 gene
- The study also revealed that AEG1 is mainly expressed in different parts of the epididymis, a duct in the male reproductive system, but not significantly so in the testis.
- The natural genetic variation of the AEG1 gene was examined in different horse breeds, revealing that several polymorphisms exist, including one that affects the amino acid sequence and potentially the function of the resulting protein.
Location of the PGK2 gene relative to AEG1
- In a related finding, it was discovered during sequence comparisons that the gene for phosphoglycerate kinase 2 (PGK2), a protein expressed only in the testis, is located approximately 39 kilobases downstream of the AEG1 gene.
Cite This Article
APA
Giese A, Jude R, Kuiper H, Piumi F, Schambony A, Guérin G, Distl O, Töpfer-Petersen E, Leeb T.
(2002).
Molecular characterization of the equine AEG1 locus.
Gene, 292(1-2), 65-72.
https://doi.org/10.1016/s0378-1119(02)00673-x Publication
Researcher Affiliations
- Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany.
MeSH Terms
- 5' Flanking Region / genetics
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Cloning, Molecular
- DNA / chemistry
- DNA / genetics
- DNA, Complementary / chemistry
- DNA, Complementary / genetics
- Epididymis / metabolism
- Exons
- Gene Expression
- Genes / genetics
- Glycoproteins / genetics
- Glycoproteins / metabolism
- Horses / genetics
- In Situ Hybridization, Fluorescence
- Introns
- Male
- Membrane Glycoproteins
- Molecular Sequence Data
- Polymorphism, Genetic
- RNA, Messenger / genetics
- RNA, Messenger / metabolism
- Salivary Proteins and Peptides / genetics
- Salivary Proteins and Peptides / metabolism
- Seminal Plasma Proteins / genetics
- Seminal Plasma Proteins / metabolism
- Sequence Alignment
- Sequence Analysis, DNA
- Sequence Homology, Amino Acid
Citations
This article has been cited 4 times.- Laseca N, Anaya G, Peña Z, Pirosanto Y, Molina A, Demyda Peyrás S. Impaired Reproductive Function in Equines: From Genetics to Genomics. Animals (Basel) 2021 Feb 3;11(2).
- Schrimpf R, Gottschalk M, Metzger J, Martinsson G, Sieme H, Distl O. Screening of whole genome sequences identified high-impact variants for stallion fertility. BMC Genomics 2016 Apr 14;17:288.
- Chowdhary BP, Raudsepp T. The horse genome derby: racing from map to whole genome sequence. Chromosome Res 2008;16(1):109-27.
- Chen K, Knorr C, Moser G, Gatphayak K, Brenig B. Molecular characterization of the porcine testis-specific phosphoglycerate kinase 2 (PGK2) gene and its association with male fertility. Mamm Genome 2004 Dec;15(12):996-1006.
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