@article{17593, keywords = {Animals, Base Sequence, Carrier Proteins, Cation Transport Proteins, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 2, DNA Primers, Exons, Female, Humans, Iron-Binding Proteins, Male, Membrane Proteins, Mice, Molecular Sequence Data, Pedigree, Polymorphism, Genetic, Pseudogenes, Receptors, Interleukin, Receptors, Interleukin-8A, Repetitive Sequences, Nucleic Acid}, author = {White J K and Shaw M A and Barton C H and Cerretti D P and Williams H and Mock B A and Carter N P and Peacock C S and Blackwell J M}, title = {Genetic and physical mapping of 2q35 in the region of the NRAMP and IL8R genes: identification of a polymorphic repeat in exon 2 of NRAMP.}, abstract = {

Recent interest has focused on the region of conserved synteny between mouse chromosome 1 and human 2q33-q37, particularly over the region encoding the murine macrophage resistance gene Ity/Lsh/Bcg (candidate Nramp) and members of the Il8r interleukin-8 (IL8) receptor gene cluster. In this paper, identification of a restriction fragment length polymorphism in the IL8RB gene in 35 pedigrees previously typed for markers in the 2q33-q37 interval provided evidence (lod scores > 3) for linkage between IL8RB and the 2q34-q35 markers FN1, TNP1, VIL1, and DES. Physical mapping, using yeast artificial chromosomes isolated with VIL1, confirmed that IL8RA, IL8RB, and the IL8RB pseudogene map within the NRAMP-VIL1 interval, with the physical distance (155 kb) from 5' LSH to 3' VIL1 representing approximately 3-fold that observed in the mouse. Partial sequencing of NRAMP confirmed the presence of the N-terminal proline/serine-rich putative SH3 binding domain in exon 2 of the human gene. Further analysis of Brazilian leprosy and visceral leishmaniasis pedigrees identified a rare second allele varying in a 9-nucleotide repeat motif of the exon 2 sequence but segregating independently of the disease phenotype.

}, year = {1994}, journal = {Genomics}, volume = {24}, pages = {295-302}, month = {1994 Nov 15}, issn = {0888-7543}, doi = {10.1006/geno.1994.1619}, language = {eng}, }