Disease relevance of OR1J2

• Inspection of the orthologous region of HSA5 highlighted a previously fine-mapped locus for human arthrogryposis multiplex congenita neurogenic type (AMCN) [1].

High impact information on OR1J2

• High-resolution gene maps of horse chromosomes 14 and 21: Additional insights into evolution and rearrangements of HSA5 homologs in mammals [2].
• High-resolution physically ordered gene maps for equine homologs of human chromosome 5 (HSA5), viz., horse chromosomes 14 and 21 (ECA14 and ECA21), were generated by adding 179 new loci (131 gene-specific and 48 microsatellites) to the existing maps of the two chromosomes [2].
• It also demonstrates that compared to ECA14, the ECA21 segment corresponding to HSA5 is a more conserved region because of preserved gene order in a larger number of and more diverse species [2].
• The recognition of HSA 5/3/21 expands on the 3/21 synteny originally designated as an ancestral state for all eutherians [3].
• The mapping of genes spanning the length of HSA5 in cattle and also in mouse permits syntenic comparisons between prototypic genomes of three mammalian orders, providing insight into the evolutionary history of this region of the ancestral mammalian genome [4].

Biological context of OR1J2

• Our data show that the linear order of genes has not been conserved within the homologous region of HSA5 and BTA7, and one chromosomal translocation or inversion is proposed to account for this difference [5].

Anatomical context of OR1J2

• Among the monoclonal antibodies generated against acrosome-reacted human sperm, HSA-5 was shown to react with a sperm antigen localized predominantly to the equatorial region of the acrosome of human sperm and to the head and tail of mouse sperm [6].
• HSA-5 did not cross-react with any other tissues except for sperm in adult testes and epididymis [6].

Analytical, diagnostic and therapeutic context of OR1J2

• Comparative anchor tagged sequences (CATS) from human Chromosome 5 (HSA5) were used as PCR primers to produce molecular markers for synteny mapping in the horse [7].
• To provide a comprehensive comparative map for efficient selection of candidate genes, we assigned 117 genes from HSA5 using a porcine radiation hybrid (IMpRH) panel [8].
• This antigen, designated as HSA-5, was susceptible to proteolytic degradation and revealed multiple immunoreactive bands in Western blot analyses of some preparations [6].
• Using ELISA and a dot blot assay, peptide regions containing the immunogenic epitopes recognized by HSA-5 monoclonal antibody were identified [9].

References