Polymorphisms of the upstream regulatory region of the major histocompatibility complex DRB genes in domestic horses.
Abstract: Sequence information was obtained on the variation of the ELA-DRB upstream regulatory region (URR) after polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) cloning and sequencing of approximately 220 bp upstream of the first exon of horse DRB genes. The sequence of the proximal URR of equine DRB is composed of highly conserved sequence motifs, showing the presence of the W, X, Y, CAAT and TATA conserved boxes of major histocompatibility complex (MHC) class II promoters. Five different polymorphic horse DRB promoter sequences were detected in five horse breeds. The results demonstrate the existence of polymorphism in the nucleotide sequences of the ELA-DRB URR, located in the functionally important conserved consensus sequences, the X2 box, the Y box and the TATA box, while conservation were observed in X1 and CAAT boxes. The nucleotide diversity among horse URRs was intermediate between that seen within human and mouse DRB promoters, suggesting the existence of another important source of variability in ELA-DRB genes. In addition, phylogenetic comparisons, identity analysis and sequence organization suggested that the reported sequences would correspond to an expressed ELA-DRB locus. However, further information about the functional significance of these promoter polymorphisms will probably be acquired through expression studies on the different sequences.
Publication Date: 2005-03-25 PubMed ID: 15787641DOI: 10.1111/j.1744-313X.2005.00496.xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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This research study investigates the variation of the upstream regulatory region (URR) of the Equine Leukocyte Antigen DRB (ELA-DRB) genes in horses, and uncovers polymorphisms – differences in the genetic sequence – in specific areas of the URR, which could offer another source of variability within these genes.
Research Methodology
- The researchers employed Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) cloning and sequencing methods to study a 220 base pair sequence located upstream of the first exon in horse DRB genes.
- This length of nucleotide sequence forms the URR of the ELA-DRB genes, which plays a pivotal role in the regulation of these genes.
Findings
- The URR of equine DRB genes contains highly conserved sequence motifs, including the presence of the W, X, Y, CAAT, and TATA conserved boxes.
- These elements are integral to Major histocompatibility complex (MHC) class II promoters.
- The researchers discovered five different polymorphic horse DRB promoter sequences in five different horse breeds.
- These sequence differences (called polymorphisms) are located in the functionally essential conserved consensus sequences: the X2 box, the Y box, and the TATA box.
- Conversely, they noticed sequence conservation in the X1 and CAAT boxes.
Significance and Implications
- The sequence diversity among horse URRs was intermediate between the diversity observed within human and mouse DRB promoters.
- This suggests that these sequence differences could provide an additional source of variability in ELA-DRB genes, which are key in immune responses.
- Phylogenetic comparisons, identity analysis, and sequence organization suggested that the studied sequences could pertain to an expressed ELA-DRB locus.
- This means that they could be part of functional genes involved in encoding the MHC class II molecules.
- The researchers acknowledged that further research is required to elucidate the functional implications of these promoter polymorphisms, likely via expression studies on the different sequences.
Cite This Article
APA
Díaz S, Giovambattista G, Peral-García P.
(2005).
Polymorphisms of the upstream regulatory region of the major histocompatibility complex DRB genes in domestic horses.
Int J Immunogenet, 32(2), 91-98.
https://doi.org/10.1111/j.1744-313X.2005.00496.x Publication
Researcher Affiliations
- Centro de Investigaciones en Genética Básica y Aplicada (CIGEBA), Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Argentina. sdiaz@museo.fcnym.unlp.edu.ar
MeSH Terms
- Animals
- Base Sequence
- Histocompatibility Antigens Class II / classification
- Histocompatibility Antigens Class II / genetics
- Horses / classification
- Horses / genetics
- Molecular Sequence Data
- Phylogeny
- Polymorphism, Genetic
- Promoter Regions, Genetic / genetics
Citations
This article has been cited 3 times.- Miller D, Tallmadge RL, Binns M, Zhu B, Mohamoud YA, Ahmed A, Brooks SA, Antczak DF. Polymorphism at expressed DQ and DR loci in five common equine MHC haplotypes.. Immunogenetics 2017 Mar;69(3):145-156.
- Janova E, Futas J, Klumplerova M, Putnova L, Vrtkova I, Vyskocil M, Frolkova P, Horin P. Genetic diversity and conservation in a small endangered horse population.. J Appl Genet 2013 Aug;54(3):285-92.
- Axtner J, Sommer S. The functional importance of sequence versus expression variability of MHC alleles in parasite resistance.. Genetica 2012 Dec;140(10-12):407-20.
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