The most common diseases are:
1q21.1 deletion syndrome
Sonic Hedgehog gene haploinsufficiency causing Holoprosencephaly
22q11.2 deletion syndrome
Progranulin mutations resulting in Frontotemporal dementia
Haploinsufficiency of A20
Few types of cancers
Causes of Haploinsufficiency:
There are several causes of haploinsufficiency. The production message can be erased due to a mutation in the gene. Deletion may cause missing of one of the copies of the gene. The protein or message that is generated by the cell may not be stable, or some other cell may degrade it.
The haploinsufficient gene needs both the alleles for expressing the wild type. The mutation is not to be called haploinsufficient, but the gene is known as haploinsufficient, which is a cause of functionality loss. The gene may also be haploinsufficient in case there is the inheritance of the loss-of-function phenotype in a recessive way as compared to the allele of wild-type.
Mechanism of Haploinsufficiency:
The loss of a functional allele causes the change in the dosage of genes known as allelic insufficiency. Williams syndrome is the example of such a phenomenon, in which the haploinsufficient gene at 7q11.23 causes the neurodevelopmental disorder. The copy-number variation (CNV) of 28 genes leads to this haploinsufficiency. These dosage-sensitive genes are crucial for constructive cognition and language in humans.
Telomerase reverse transcriptase is another haploinsufficiency example, which leads to dyskeratosiscongenitaâ€™s anticipation that is autosomal dominant. It is a rare disorder that is inherited and possesses skin abnormalities that leads to difficulties in bone marrow, sometimes even failure and as well as pulmonary fibrosis. In telomerase protein, its reverse transcriptase domain the motif D gets mutated by a null mutation leading to a phenotype Htert. Therefore, telomerase dosage is pivotal for maintaining the proliferation of the tissue.
Another haploinsufficiency variation exists in the PRPF31 gene for mutation, a well-known reason for the disease retinitis pigmentosa (autosomal dominant). This gene comprises two wild type alleles, high and low expressivity allele. The gene that is mutated if carries high expressivity allele, then the phenotype produced, is without the disease. When it inherits low expressivity allele, the level of the residual protein decrease below the standard margin (which is needed for normal functioning) and cause a disease phenotype.
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