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At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome. More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single-gene and multi-gene clusters along the chromosome.
Researchers have identified genes on the short arm of chromosome 11 that are associated with particular features of WAGR syndrome. A loss of the PAX6 gene disrupts normal eye development, leading to aniridia and other eye problems, and may also affect the development of the brain.
23 mar 2006 · We found that 805 (52.8%) of the genes have at least two or more variants, consisting of 738 known genes, 36 novel CDSs, 30 novel transcripts and one putative gene.
For example, the hemoglobin beta gene (HBB) is found on chromosome 11p15.4. This means that the HBB gene lies on the short arm (p) of chromosome 11 and is found at the band labeled 15.4. With the advent of new techniques in DNA analysis, we are able to look at the chromosome in much greater detail.
23 mar 2006 · Initial gene annotation indicates an average gene density of 11.6 genes per megabase, including 1,524 protein-coding genes, some of which were identified using novel methods, and 765 pseudogenes. One-quarter of the protein-coding genes shows overlap with other genes.
Chromosome 11 is singular in that it carries hosts of genes involved in various illnesses. At least 180 genes involved in perceiving smells are found on the chromosome.
Genes associated with the disorders and other traits listed on this poster were selected from the comprehensive database Online Mendelian Inheritance in Man (OMIM), which designated the status of each of these as confirmed or provisional as of July 2000.
