Definitions for haploinsufficiency
hap·loin·suf·fi·cien·cy

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1. haploinsufficiencynoun

   The state of a diploid organism having only a single copy of a particular gene, the other copy being inactivated due to mutation

WikipediaRate this definition:0.0 / 0 votes

1. Haploinsufficiency

   Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. Haploinsufficiency may arise from a de novo or inherited loss-of-function mutation in the variant allele, such that it yields little or no gene product (often a protein). Although the other, standard allele still produces the standard amount of product, the total product is insufficient to produce the standard phenotype. This heterozygous genotype may result in a non- or sub-standard, deleterious, and (or) disease phenotype. Haploinsufficiency is the standard explanation for dominant deleterious alleles.In the alternative case of haplosufficiency, the loss-of-function allele behaves as above, but the single standard allele in the heterozygous genotype produces sufficient gene product to produce the same, standard phenotype as seen in the homozygote. Haplosufficiency accounts for the typical dominance of the “standard” allele over variant alleles, where the phenotypic identity of genotypes heterozygous and homozygous for the allele defines it as dominant, versus a variant phenotype produced only by the genotype homozygous for the alternative allele, which defines it as recessive.

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1. Haploinsufficiency

   Haploinsufficiency occurs when a diploid organism has only a single functional copy of a gene and the single functional copy does not produce enough of a gene product to bring about a wild-type condition, leading to an abnormal or diseased state. It is responsible for some but not all autosomal dominant disorders. Haplosufficiency is the opposite case: when a diploid organism only has a single functional copy of a gene and the single functional copy produces enough of a gene product to bring about a wild-type condition. The wild-type allele of a haplosufficient gene is dominant over the mutant allele, since a heterozygote displays the normal wild-type phenotype. On the other hand, the wild-type allele of a haploinsufficient gene is recessive to the mutant allele, since a heterozygote displays the mutant phenotype. It is also possible that the heterozygote will display a third phenotype and in that case, the mutant allele is incompletely dominant to the recessive wild-type allele.

How to pronounce haploinsufficiency?

1. Alex

   US English

   David

   US English

   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

   US English

   Oliver

   British

   Wendy

   British

   Fred

   US English

   Tessa

   South African

How to say haploinsufficiency in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of haploinsufficiency in Chaldean Numerology is: 2

2. Pythagorean Numerology

   The numerical value of haploinsufficiency in Pythagorean Numerology is: 6

References

1. ^ Wiktionary
   https://en.wiktionary.org/wiki/Haploinsufficiency
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Haploinsufficiency
3. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=haploinsufficiency