Talk:Haploinsufficiency

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The homozygous form

For each of the diseases listed, what is the effect if the defective gene is present twice (= homozygous)?

The page Achondroplastic dwarfism says that a baby with the achondroplastic dwarfism gene homozygous dies before or soon after birth. Anthony Appleyard 14:42, 25 July 2006 (UTC)[reply]

By this definition of haploinsuffiiciency, achondroplasia is not a good example. this disease occurs because the mutated gene encodes a receptor which is constitutively active(always switched on) which leads to dwarfism, NOT because the normal copy is insufficient for normal function but because the mutant is MORE active.

I removed achondroplasia, sounds more like a hypermorph - dominant gain-of-function - than haploinsufficiency. Dr d12 18:15, 4 December 2006 (UTC)[reply]

Huntington Disease is not caused by haploinsufficiency. One copy of the mutant allele is enough to cause the disease because the misfolded protein from the mutant allele also affects the wildtype protein from the normal allele. —Preceding unsigned comment added by 71.194.163.144 (talk) 06:34, 12 November 2007 (UTC)[reply]

Dosage sensitivity and Triplosensitivity

Does any one have any thoughts on renaming this page 'Dosage sensitivity' and including Triplosensitivity as the opposite of Haploinsufficiency. It seems like over kill to create a separate TS page. Abergabe (talk) 15:57, 15 February 2017 (UTC)[reply]

Repetition in 1st paragraph.

The first paragraph appears to me to say the same facts in about 4 different sentences...

"to explain a phenotype when a diploid organism has lost one copy of a gene and is left with a single functional copy" "by a loss-of-function mutation, in which having only one copy of the wild-type allele is not sufficient to produce the wild-type phenotype" "has a single functional copy of a gene, and that single copy does not produce enough product to display the wild type's phenotypic characteristics" "general assumption is that the single remaining functional copy of the gene cannot provide sufficient gene product (typically a protein) to preserve the wild-type phenotype" I'm not that familiar with this topic, but it feels like this needs simplifying. Zorgster (talk) 12:24, 10 May 2017 (UTC)[reply]

Zorgster (talk) 12:24, 10 May 2017 (UTC)[reply]

LOF mutations of haploinsufficient genes are inherited in a dominant manner

In Mechanism, second paragraph, second to last line, shouldn't it be "dominant manner"? 5.179.128.28 (talk) 15:15, 5 December 2021 (UTC)[reply]

Moved segment to here

I moved the following segment to here, because it seems contradictory in stating that the phenotype in haploinsufficiency would be inherited in a recessive manner. Logically, it would be inherited in a dominant manner, because the unaffected, wild, type allele would not be able to compensate. Mikael Häggström (talk) 14:13, 18 February 2022 (UTC)[reply]

A haploinsufficient gene is described as needing both alleles to be functional in order to express the wild type. One can not describe a mutation as haploinsufficient; instead, one may describe a gene as being haploinsufficient if a mutation in that gene causes a loss of function and if the loss-of-function phenotype is inherited in a recessive manner relative to the wild-type allele.