Deletion Mapping

Deletion Mapping
• Specialized genetic mapping technique that enables scientists to determine the
location of a specific gene on a chromosome
• This technique is useful when the location of alleles, variants of a recessive gene, are
known to be located within a specific region, but their specific location is unknown
• The process of deletion mapping is that a donor strain, which carries a point mutation in the
gene of interest, cannot restore the wild-type function of the gene when crossed with a
recipient deletion mutant strain when both the point mutation and a region of the
deletion coincide i.e. affect the same base pair. If the point mutation of one strain does
not coincide with the deletion mutation in the other strain, then the restoration of wild-type
function can occur.
• There will be a recombination event, which allows the deletion to be repaired
allowing the function of the gene to be restored. Recombination is the process by
which new combinations of genes arise as the chromosome is broken and re-joined
• The donor wild-type sequence in the region that corresponds to the recipients deleted
region can invade and repair the deleted region, enabling restoration of gene
function. This restoration indicates that the point mutation lies outside of the region deleted.
 Deletion Mapping Methodology
• Designing a deletion series
• Generating deletion mutants
• Phenotypic analysis
• Correlating phenotypes with deletions
• Fine mapping and identification
 Examples
• Eye development genes: Deletion mapping has been employed to study genes involved in eye
development in Drosophila. For example, the eyeless (ey) gene is crucial for eye formation.
Deletion mapping experiments helped identify the region of the genome containing the ey gene.
Further analysis of smaller deletions within that region allowed researchers to pinpoint the exact
location of the ey gene and understand its role in eye development.

• Other examples include circadian rhythm genes and memory regulation genes.
 Deletion Mapping and in-situ
Hybridization

• A form of complementation analysis can be used to determine whether a given mutation maps
within a given deletion or outside it. Essentially the deletion stock and the mutant stock are
crossed to generate flies carrying one chromosome of a pair of homologues carrying the
deletion and the other carrying the mutation (mutation/deletion). If flies of this genotype have the
mutant phenotype (the deletion fails to complement the mutation) the mutation must fall
within the deleted region, so the fly has no wild type copy of the gene. Conversely if flies of this
genotype show a wild type phenotype(the deletion complements the mutation) the mutation must
map to somewhere outside this deletion.
• Collections of overlapping deletions for many regions of the Drosophila genome have been
isolated and mapped.
Deletion Mapping
Deletion
Mapping
Problem