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Dominance (genetics)

dominance (genetics), dominance genetics definition
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus12 The first allele is dominant and the second allele is recessive For genes on an autosome any chromosome other than a sex chromosome, the alleles and their associated traits are autosomal dominant or autosomal recessive Dominance is a key concept in Mendelian inheritance and classical genetics Often the dominant allele codes for a functional protein whereas the recessive allele does not

A classic example of dominance is the inheritance of seed shape in peas Peas may be round, associated with allele R or wrinkled, associated with allele r In this case, three combinations of alleles genotypes are possible: RR, Rr, and rr The RR individuals have round peas and the rr individuals have wrinkled peas In Rr individuals the R allele masks the presence of the r allele, so these individuals also have round peas Thus, allele R is dominant to allele r, and allele r is recessive to allele R This use of upper case letters for dominant alleles and lower case ones for recessive alleles is a widely followed convention

More generally, where a gene exists in two allelic versions designated A and a, three combinations of alleles are possible: AA, Aa, and aa If AA and aa individuals homozygotes show different forms of some trait phenotypes, and Aa individuals heterozygotes show the same phenotype as AA individuals, then allele A is said to dominate, be dominant to or show dominance to allele a, and a is said to be recessive to A

Dominance is not inherent to either an allele or its phenotype It is a relationship between two alleles of a gene and their associated phenotypes; one allele can be dominant over a second allele, recessive to a third allele, and codominant to a fourth Also, an allele may be dominant for a particular aspect of phenotype but not for other aspects influenced by the same gene Dominance differs from epistasis, a relationship in which an allele of one gene affects the expression of another allele at a different gene3

Contents

  • 1 Background
    • 11 Chromosomes, genes, and alleles
  • 2 Complete Dominance
    • 21 Complete dominance
    • 22 Incomplete dominance
    • 23 Co-dominance
    • 24 Addressing common misconceptions
  • 3 Nomenclature
  • 4 Relationship to other genetic concepts
    • 41 Multiple alleles
    • 42 Autosomal versus sex-linked dominance
    • 43 Epistasis
    • 44 Hardy-Weinberg principle estimation of carrier frequency
    • 45 Dominant versus advantageous
  • 5 Molecular mechanisms
    • 51 Loss of function and haplosufficiency
    • 52 Dominant-negative mutations
  • 6 Dominant and recessive genetic diseases in humans
  • 7 See also
  • 8 References
  • 9 External links

Backgroundedit

See also: Introduction to genetics

The concept of dominance was introduced by Gregor Johann Mendel Though Mendel, "The Father of Genetics", first used the term in the 1860s, it was not widely known until the early twentieth century Mendel observed that, for a variety of traits of garden peas having to do with the appearance of seeds, seed pods, and plants, there were two discrete phenotypes, such as round versus wrinkled seeds, yellow versus green seeds, red versus white flowers or tall versus short plants When bred separately, the plants always produced the same phenotypes, generation after generation However, when lines with different phenotypes were crossed interbred, one and only one of the parental phenotypes showed up in the offspring green, or round, or red, or tall However, when these hybrid plants were crossed, the offspring plants showed the two original phenotypes, in a characteristic 3:1 ratio, the more common phenotype being that of the parental hybrid plants Mendel reasoned that each parent in the first cross was a homozygote for different alleles one parent AA and the other parent aa, that each contributed one allele to the offspring, with the result that all of these hybrids were heterozygotes Aa, and that one of the two alleles in the hybrid cross dominated expression of the other: A masked a The final cross between two heterozygotes Aa X Aa would produce AA, Aa, and aa offspring in a 1:2:1 genotype ratio with the first two classes showing the A phenotype, and the last showing the a phenotype, thereby producing the 3:1 phenotype ratio

Mendel did not use the terms gene, allele, phenotype, genotype, homozygote, and heterozygote, all of which were introduced later He did introduce the notation of capital and lowercase letters for dominant and recessive alleles, respectively, still in use today

Chromosomes, genes, and allelesedit

See also: Ploidy and Zygosity an autosomal dominant pattern an autosomal recessive pattern

Most animals and some plants have paired chromosomes, and are described as diploid They have two versions of each chromosome, one contributed by the mother's ovum, and the other by the father's sperm, known as gametes, described as haploid, and created through meiosis These gametes then fuse during fertilization during sexual reproduction, into a new single cell zygote, which divide twice, resulting in a new organism with the same number of pairs of chromosomes in each non-gamete cell as its parents

Each chromosome of a matching homologous pair is structurally similar to the other, and has a very similar DNA sequence loci, singular locus The DNA in each chromosome functions as a series of discrete genes that influence various traits Thus, each gene also has a corresponding homologue, which may exist in different versions called alleles The alleles at the same locus on the two homologous chromosomes may be identical or different

Blood types in humans is determined by a gene that creates an A, B, AB or O blood type and is located in the long arm of chromosome nine There are three different alleles that could be present at this locus, but only two can be present in any individual, one inherited from their mother and one from their father4

If two alleles of a given gene are identical, the organism is called a homozygote and is said to be homozygous with respect to that gene; if instead the two alleles are different, the organism is a heterozygote and is heterozygous The genetic makeup of an organism, either at a single locus or over all its genes collectively, is called its genotype The genotype of an organism directly and indirectly affects its molecular, physical, and other traits, which individually or collectively are called its phenotype At heterozygous gene loci, the two alleles interact to produce the phenotype

Complete Dominanceedit

Complete dominanceedit

In complete dominance, the effect of one allele in a heterozygous genotype completely masks the effect of the other The allele that masks the other is said to be dominant to the latter, and the allele that is masked is said to be recessive to the former5 Complete dominance therefore means that the phenotype of the heterozygote is indistinguishable from that of the dominant homozygote

A classic example of dominance is the inheritance of seed shape pea shape in peas Peas may be round associated with allele R or wrinkled associated with allele r In this case, three combinations of alleles genotypes are possible: RR and rr are homozygous and Rr is heterozygous The RR individuals have round peas and the rr individuals have wrinkled peas In Rr individuals the R allele masks the presence of the r allele, so these individuals also have round peas Thus, allele R is dominant to allele r, and allele r is recessive to allele R

Incomplete dominanceedit

This Punnett square illustrates incomplete dominance In this example, the red petal trait associated with the R allele recombines with the white petal trait of the r allele The plant incompletely expresses the dominant trait R causing plants with the Rr genotype to express flowers with less red pigment resulting in pink flowers The colors are not blended together, the dominant trait is just expressed less strongly

Incomplete dominance also called partial dominance or semi-dominance occurs when the phenotype of the heterozygous genotype is distinct from and often intermediate to the phenotypes of the homozygous genotypes For example, the snapdragon flower color is homozygous for either red or white When the red homozygous flower is paired with the white homozygous flower, the result yields a pink snapdragon flower The pink snapdragon is the result of incomplete dominance A similar type of incomplete dominance is found in the four o'clock plant wherein pink color is produced when true-bred parents of white and red flowers are crossed In quantitative genetics, where phenotypes are measured and treated numerically, if a heterozygote's phenotype is exactly between numerically that of the two homozygotes, the phenotype is said to exhibit no dominance at all, ie dominance exists only when the heterozygote's phenotype measure lies closer to one homozygote than the other

When plants of the F1 generation are self-pollinated, the phenotypic and genotypic ratio of the F2 generation will be 1:2:1 Red:Pink:White6

See partial dominance hypothesis theory

Co-dominanceedit

Co-dominance in a Camellia cultivar A and B blood types in humans show co-dominance, but the O type is recessive to A and B This diagram shows co-dominance In this example a white bull WW mates with a red cow RR, and their offspring exhibit co-dominance expressing both white and red hairs

Co-dominance occurs when the contributions of both alleles are visible in the phenotype

For example, in the ABO blood group system, chemical modifications to a glycoprotein the H antigen on the surfaces of blood cells are controlled by three alleles, two of which are co-dominant to each other IA, IB and dominant over the recessive i at the ABO locus The IA and IB alleles produce different modifications The enzyme coded for by IA adds an N-acetylgalactosamine to the membrane-bound H antigen The IB enzyme adds a galactose The i allele produces no modification Thus IA and IB alleles are each dominant to i IAIA and IAi individuals both have type A blood, and IBIB and IBi individuals both have type B blood, but IAIB individuals have both modifications on their blood cells and thus have type AB blood, so the IA and IB alleles are said to be co-dominant

Another example occurs at the locus for the Beta-globin component of hemoglobin, where the three molecular phenotypes of HbA/HbA, HbA/HbS, and HbS/HbS are all distinguishable by protein electrophoresis The medical condition produced by the heterozygous genotype is called sickle-cell trait and is a milder condition distinguishable from sickle-cell anemia, thus the alleles show incomplete dominance with respect to anemia, see above For most gene loci at the molecular level, both alleles are expressed co-dominantly, because both are transcribed into RNA

Co-dominance, where allelic products co-exist in the phenotype, is different from incomplete dominance, where the quantitative interaction of allele products produces an intermediate phenotype For example, in co-dominance, a red homozygous flower and a white homozygous flower will produce offspring that have red and white spots When plants of the F1 generation are self-pollinated, the phenotypic and genotypic ratio of the F2 generation will be 1:2:1 Red:Spotted:White These ratios are the same as those for incomplete dominance Again, note that this classical terminology is inappropriate – in reality such cases should not be said to exhibit dominance at all

Addressing common misconceptionsedit

While it is often convenient to talk about a recessive allele or a dominant trait, dominance is not inherent to either an allele or its phenotype Dominance is a relationship between two alleles of a gene and their associated phenotypes A "dominant" allele is dominant to a particular allele of the same gene that can be inferred from the context, but it may be recessive to a third allele, and codominant to a fourth Similarly, a "recessive" trait is a trait associated with a particular recessive allele implied by the context, but that same trait may occur in a different context where it is due to some other gene and a dominant allele

Dominance is unrelated to the nature of the phenotype itself, that is, whether it is regarded as "normal" or "abnormal," "standard" or "nonstandard," "healthy" or "diseased," "stronger" or "weaker," or more or less extreme A dominant or recessive allele may account for any of these trait types

Dominance does not determine whether an allele is deleterious, neutral or advantageous However, selection must operate on genes indirectly through phenotypes, and dominance affects the exposure of alleles in phenotypes, and hence the rate of change in allele frequencies under selection Deleterious recessive alleles may persist in a population at low frequencies, with most copies carried in heterozygotes, at no cost to those individuals These rare recessives are the basis for many hereditary genetic disorders

Dominance is also unrelated to the distribution of alleles in the population Some dominant alleles are extremely common, while others are extremely rare The most common allele in a population may be recessive when combined with some rare variants

Nomenclatureedit

This section is about gene notations that identify dominance For modern formal nomenclature, see Gene nomenclature

In genetics, symbols began as algebraic placeholders When one allele is dominant to another, the oldest convention is to symbolize the dominant allele with a capital letter The recessive allele is assigned the same letter in lower case In the pea example, once the dominance relationship between the two alleles is known, it is possible to designate the dominant allele that produces a round shape by a capital-letter symbol R, and the recessive allele that produces a wrinkled shape by a lower-case symbol r The homozygous dominant, heterozygous, and homozygous recessive genotypes are then written RR, Rr, and rr, respectively It would also be possible to designate the two alleles as W and w, and the three genotypes WW, Ww, and ww, the first two of which produced round peas and the third wrinkled peas Note that the choice of "R" or "W" as the symbol for the dominant allele does not pre-judge whether the allele causing the "round" or "wrinkled" phenotype when homozygous is the dominant one

A gene may have several alleles Each allele is symbolized by the locus symbol followed by a unique superscript In many species, the most common allele in the wild population is designated the wild type allele It is symbolized with a + character as a superscript Other alleles are dominant or recessive to the wild type allele For recessive alleles, the locus symbol is in lower case letters For alleles with any degree of dominance to the wild type allele, the first letter of the locus symbol is in upper case For example, here are some of the alleles at the a locus of the laboratory mouse, Mus musculus: Ay, dominant yellow; a+, wild type; and abt, black and tan The abt allele is recessive to the wild type allele, and the Ay allele is codominant to the wild type allele The Ay allele is also codominant to the abt allele, but showing that relationship is beyond the limits of the rules for mouse genetic nomenclature

Rules of genetic nomenclature have evolved as genetics has become more complex Committees have standardized the rules for some species, but not for all Rules for one species may differ somewhat from the rules for a different species78

Relationship to other genetic conceptsedit

Multiple allelesedit

Main article: Allele § Multiple alleles

Although any individual of a diploid organism has at most two different alleles at any one locus barring aneuploidies, most genes exist in a large number of allelic versions in the population as a whole If the alleles have different effects on the phenotype, sometimes their dominance interactions with each other can be described as a series

For example, coat color in domestic cats is affected by a series of alleles of the TYR gene which encodes the enzyme tyrosinase The alleles C, cb, cs, and ca full colour, Burmese, Siamese, and albino, respectively produce different levels of pigment and hence different levels of colour dilution The C allele full colour is completely dominant over the last three and the ca allele albino is completely recessive to the first three 9 10 11

Autosomal versus sex-linked dominanceedit

Main article: Sex linkage

In humans and other mammal species, sex is determined by two sex chromosomes called the X chromosome and the Y chromosome Human females are typically XX; males are typically XY The remaining pairs of chromosome are found in both sexes and are called autosomes; genetic traits due to loci on these chromosomes are described as autosomal, and may be dominant or recessive Genetic traits on the X and Y chromosomes are called sex-linked, because they are linked to sex chromosomes, not because they are characteristic of one sex or the other In practice, the term almost always refers to X-linked traits and a great many such traits such as red-green colour vision deficiency are not affected by sex Females have two copies of every gene locus found on the X chromosome, just as for the autosomes, and the same dominance relationships apply Males however have only one copy of each X chromosome gene locus, and are described as hemizygous for these genes The Y chromosome is much smaller than the X, and contains a much smaller set of genes, including, but not limited to, those that influence 'maleness', such as the SRY gene for testis determining factor Dominance rules for sex-linked gene loci are determined by their behavior in the female: because the male has only one allele except in the case of certain types of Y chromosome aneuploidy, that allele is always expressed regardless of whether it is dominant or recessive

Epistasisedit

Main article: Epistasis

Epistasis "epi + stasis = to sit on top" is an interaction between alleles at two different gene loci that affect a single trait, which may sometimes resemble a dominance interaction between two different alleles at the same locus Epistasis modifies the characteristic 9:3:3:1 ratio expected for two non-epistatic genes For two loci, 14 classes of epistatic interactions are recognized As an example of recessive epistasis, one gene locus may determine whether a flower pigment is yellow AA or Aa or green aa, while another locus determines whether the pigment is produced BB or Bb or not bb In a bb plant, the flowers will be white, irrespective of the genotype of the other locus as AA, Aa, or aa The bb combination is not dominant to the A allele: rather, the B gene shows recessive epistasis to the A gene, because the B locus when homozygous for the recessive allele bb suppresses phenotypic expression of the A locus In a cross between two AaBb plants, this produces a characteristic 9:3:4 ratio, in this case of yellow : green : white flowers

In dominant epistasis, one gene locus may determine yellow or green pigment as in the previous example: AA and Aa are yellow, and aa are green A second locus determines whether a pigment precursor is produced dd or not DD or Dd Here, in a DD or Dd plant, the flowers will be colorless irrespective of the genotype at the A locus, because of the epistatic effect of the dominant D allele Thus, in a cross between two AaDd plants, 3/4 of the plants will be colorless, and the yellow and green phenotypes are expressed only in dd plants This produces a characteristic 12:3:1 ratio of white : yellow : green plants

Supplementary epistasis occurs when two loci affect the same phenotype For example, if pigment color is produced by CC or Cc but not cc, and by DD or Dd but not dd, then pigment is not produced in any genotypic combination with either cc or dd That is, both loci must have at least one dominant allele to produce the phenotype This produces a characteristic 9:7 ratio of pigmented to unpigmented plants Complementary epistasis in contrast produces an unpigmented plant if and only if the genotype is cc and dd, and the characteristic ratio is 15:1 between pigmented and unpigmented plants12

Classical genetics considered epistatic interactions between two genes at a time It is now evident from molecular genetics that all gene loci are involved in complex interactions with many other genes eg, metabolic pathways may involve scores of genes, and that this creates epistatic interactions that are much more complex than the classic two-locus models

Hardy-Weinberg principle estimation of carrier frequencyedit

Main article: Hardy-Weinberg principle

The frequency of the heterozygous state which is the carrier state for a recessive trait can be estimated using the Hardy-Weinberg formula: p 2 + 2 p q + q 2 = 1 +2pq+q^=1

This formula applies to a gene with exactly two alleles and relates the frequencies of those alleles in a large population to the frequencies of their three genotypes in that population

For example, if p is the frequency of allele A, and q is the frequency of allele a then the terms p2, 2pq, and q2 are the frequencies of the genotypes AA, Aa and aa respectively Since the gene has only two alleles, all alleles must be either A or a and p + q = 1 Now, if A is completely dominant to a then the frequency of the carrier genotype Aa cannot be directly observed since it has the same traits as the homozygous genotype AA, however it can be estimated from the frequency of the recessive trait in the population, since this is the same as that of the homozygous genotype aa ie the individual allele frequencies can be estimated: q = √faa, p = 1 − q, and from those the frequency of the carrier genotype can be derived: fAa = 2pq

This formula relies on a number of assumptions and an accurate estimate of the frequency of the recessive trait In general, any real-world situation will deviate from these assumptions to some degree, introducing corresponding inaccuracies into the estimate If the recessive trait is rare, then it will be hard to estimate its frequency accurately, as a very large sample size will be needed

Dominant versus advantageousedit

The property of "dominant" is sometimes confused with the concept of advantageous and the property of "recessive" is sometimes confused with the concept of deleterious, but the phenomena are distinct Dominance describes the phenotype of heterozygotes with regard to the phenotypes of the homozygotes and without respect to the degree to which different phenotypes may be beneficial or deleterious Since many genetic disease alleles are recessive and because the word dominance has a positive connotation, the assumption that the dominant phenotype is superior with respect to fitness is often made This is not assured however; as discussed below while most genetic disease alleles are deleterious and recessive, not all genetic diseases are recessive

Nevertheless, this confusion has been pervassive throughout the history of genetics and persists to this day Addressing this confusion was one of the prime motivations for the publication of the Hardy-Weinberg principle

Molecular mechanismsedit

The molecular basis of dominance was unknown to Mendel It is now understood that a gene locus includes a long series hundreds to thousands of bases or nucleotides of deoxyribonucleic acid DNA at a particular point on a chromosome The central dogma of molecular biology states that "DNA makes RNA makes protein", that is, that DNA is transcribed to make an RNA copy, and RNA is translated to make a protein In this process, different alleles at a locus may or may not be transcribed, and if transcribed may be translated to slightly different versions of the same protein called isoforms Proteins often function as enzymes that catalyze chemical reactions in the cell, which directly or indirectly produce phenotypes In any diploid organism, the DNA sequences of the two alleles present at any gene locus may be identical homozygous or different heterozygous Even if the gene locus is heterozygous at the level of the DNA sequence, the proteins made by each allele may be identical In the absence of any difference between the protein products, neither allele can be said to be dominant see co-dominance, above Even if the two protein products are slightly different allozymes, it is likely that they produce the same phenotype with respect to enzyme action, and again neither allele can be said to be dominant

Loss of function and haplosufficiencyedit

Dominance typically occurs when one of the two alleles is non-functional at the molecular level, that is, it is not transcribed or else does not produce a functional protein product This can be the result of a mutation that alters the DNA sequence of the allelecitation needed An organism homozygous for the non-functional allele will generally show a distinctive phenotype, due to the absence of the protein product For example, in humans and other organisms, the unpigmented skin of the albino phenotype13 results when an individual is homozygous for an allele that encodes a non-functional version of an enzyme needed to produce the skin pigment melanin It is important to understand that it is not the lack of function that allows the allele to be described as recessive: this is the interaction with the alternative allele in the heterozygote Three general types of interaction are possible:

  1. In the typical case, the single functional allele makes sufficient protein to produce a phenotype identical to that of the homozygote: this is called haplosufficiency For example, suppose the standard amount of enzyme produced in the functional homozygote is 100%, with the two functional alleles contributing 50% each The single functional allele in the heterozygote produces 50% of the standard amount of enzyme, which is sufficient to produce the standard phenotype If the heterozygote and the functional-allele homozygote have identical phenotypes, the functional allele is dominant to the non-functional allele This occurs at the albino gene locus: the heterozygote produces sufficient enzyme to convert the pigment precursor to melanin, and the individual has standard pigmentation
  2. Less commonly, the presence of a single functional allele gives a phenotype that is not normal but less severe than that of the non-functional homozygote This occurs when the functional allele is not haplo-sufficient The terms haplo-insufficiency and incomplete dominance are typically applied to these cases The intermediate interaction occurs where the heterozygous genotype produces a phenotype intermediate between the two homozygotes Depending on which of the two homozygotes the heterozygote most resembles, one allele is said to show incomplete dominance over the other For example, in humans the Hb gene locus is responsible for the Beta-chain protein HBB that is one of the two globin proteins that make up the blood pigment hemoglobin13 Many people are homozygous for an allele called HbA; some persons carry an alternative allele called HbS, either as homozygotes or heterozygotes The hemoglobin molecules of HbS/HbS homozygotes undergo a change in shape that distorts the morphology of the red blood cells, and causes a severe, life-threatening form of anemia called sickle-cell anemia Persons heterozygous HbA/HbS for this allele have a much less severe form of anemia called sickle-cell trait Because the disease phenotype of HbA/HbS heterozygotes is more similar to but not identical to the HbA/HbA homozygote, the HbA allele is said to be incompletely dominant to the HbS allele
  3. Rarely, a single functional allele in the heterozygote may produce insufficient gene product for any function of the gene, and the phenotype resembles that of the homozygote for the non-functional allele This complete haploinsufficiency is very unusual In these cases the non-functional allele would be said to be dominant to the functional allele This situation may occur when the non-functional allele produces a defective protein that interferes with the proper function of the protein produced by the standard allele The presence of the defective protein "dominates" the standard protein, and the disease phenotype of the heterozygote more closely resembles that of the homozygote for two defective alleles Note that the term dominant is often incorrectly applied to defective alleles whose homozygous phenotype has not been examined, but which cause a distinct phenotype when heterozygous with the normal allele This phenomenon occurs in a number of trinucleotide repeat diseases: for an example and more details see Huntington Disease14

Dominant-negative mutationsedit

Many proteins are normally active in the form of a multimer, an aggregate of multiple copies of the same protein, otherwise known as a homomultimeric protein or homooligomeric protein In fact, a majority of the 83,000 different enzymes from 9800 different organisms in the BRENDA Enzyme Database15 represent homooligomers16 When the wild-type version of the protein is present along with a mutant version, a mixed multimer can be formed A mutation that leads to a mutant protein that disrupts the activity of the wild-type protein in the multimer is a dominant-negative mutation

A dominant-negative mutation may arise in a human somatic cell and provide a proliferative advantage to the mutant cell, leading to its clonal expansion For instance, a dominant-negative mutation in a gene necessary for the normal process of programmed cell death Apoptosis in response to DNA damage can make the cell resistant to apoptosis This will allow proliferation of the clone even when excessive DNA damage is present Such dominant-negative mutations occur in the tumor suppressor gene p531718 The P53 wild-type protein is normally present as a four-protein multimer oligotetramer Dominant-negative p53 mutations occur in a number of different types of cancer and pre-cancerous lesions eg brain tumors, breast cancer, oral pre-cancerous lesions and oral cancer17

Dominant-negative mutations also occur in other tumor suppressor genes For instance two dominant-negative germ line mutations were identified in the Ataxia telangiectasia mutated ATM gene which increases susceptibility to breast cancer19 Dominant negative mutations of the transcription factor C/EBPα can cause acute myeloid leukemia20 Inherited dominant negative mutations can also increase the risk of diseases other than cancer Dominant-negative mutations in Peroxisome proliferator-activated receptor gamma PPARγ are associated with severe insulin resistance, diabetes mellitus and hypertension21

Dominant-negative mutations have also been described in organisms other than humans In fact, the first study reporting a mutant protein inhibiting the normal function of a wild-type protein in a mixed multimer was with the bacteriophage T4 tail fiber protein GP3722 Mutations that produce a truncated protein rather than a full-length mutant protein seem to have the strongest dominant-negative effect in the studies of P53, ATM, C/EBPα, and bacteriophage T4 GP37

Dominant and recessive genetic diseases in humansedit

In humans, many genetic traits or diseases are classified simply as "dominant" or "recessive" Especially with so-called recessive diseases, which are indeed a factor of recessive genes, but can oversimplify the underlying molecular basis and lead to misunderstanding of the nature of dominance For example, the recessive genetic disease phenylketonuria PKU23 results from any of a large number >60 of alleles at the gene locus for the enzyme phenylalanine hydroxylase PAH24 Many of these alleles produce little or no PAH, as a result of which the substrate phenylalanine Phe and its metabolic byproducts accumulate in the central nervous system and can cause severe intellectual disability if untreated

The genotypes and phenotypic consequences of interactions among three alleles are shown in the following table:25

Genotype PAH activity Phe conc PKU 
AA 100% 60 uM No
AB 30% 120 uM No
CC 5% 200 ~ 300 uM Hyperphenylalaninemia
BB 03% 600 ~ 2400 uM Yes

In unaffected persons homozygous for a standard functional allele AA, PAH activity is standard 100%, and the concentration of phenylalanine in the blood Phe is about 60 uM In untreated persons homozygous for one of the PKU alleles BB, PAH activity is close to zero, Phe ten to forty times standard, and the individual manifests PKU

In the AB heterozygote, PAH activity is only 30% not 50% of standard, blood Phe is elevated two-fold, and the person does not manifest PKU Thus, the A allele is dominant to the B allele with respect to PKU, but the B allele is incompletely dominant to the A allele with respect to its molecular effect, determination of PAH activity level 03% < 30% << 100% Finally, the A allele is an incomplete dominant to B with respect to Phe, as 60 uM < 120 uM << 600 uM Note once more that it is irrelevant to the question of dominance that the recessive allele produces a more extreme Phe phenotype

For a third allele C, a CC homozygote produces a very small amount of PAH enzyme, which results in a somewhat elevated level of Phe in the blood, a condition called hyperphenylalaninemia, which does not result in intellectual disability

That is, the dominance relationships of any two alleles may vary according to which aspect of the phenotype is under consideration It is typically more useful to talk about the phenotypic consequences of the allelic interactions involved in any genotype, rather than to try to force them into dominant and recessive categories

See alsoedit

  • Evolution of dominance
  • List of Mendelian traits in humans
  • Mitochondrial DNA
  • Punnett square

Referencesedit

  1. ^ "dominance" Oxford Dictionaries Online Oxford University Press Retrieved 14 May 2014 
  2. ^ "express" Oxford Dictionaries Online Oxford University Press Retrieved 14 May 2014 
  3. ^ Griffiths AJF; Gelbart WM; Miller JH; et al 1999 "Gene Interaction Leads to Modified Dihybrid Ratios" Modern Genetic Analysis New York: W H Freeman & Company ISBN 0-7167-3118-5 
  4. ^ Ridley, Matt 1999 "Disease" Genome: The Autobiography of a Species in 23 Chapters Harper Collins pp 136–146 ISBN 978-0-06-089408-5 
  5. ^ King, RC; et al 2006 A Dictionary of Genetics 7th ed Oxford University Press p 129 ISBN 978-0-19-530761-0 Dominance refers to alleles that fully manifest their phenotype when present in the heterozygous state 
  6. ^ Pennington, Sandra 1999 11th Hour: Introduction to Genetics Wiley p 43 ISBN 978-0-632-04438-2 
  7. ^ 1, Online 'Guidelines for nomenclature of genes, genetic markers, alleles, and mutations in mouse and rat'
  8. ^ 2, Online 'A standard for maize genetic nomenclature'
  9. ^ "Cat Coat Color" Veterinary Genetics Laboratory, University of California Retrieved 2011-11-02 
  10. ^ Imes, D L; Geary, L A; Grahn, R A; Lyons, L A April 2006 "Albinism in the domestic cat Felis catus is associated with a tyrosinase TYR mutation" Short Communication Animal Genetics 37 2: 175–8 PMC 1464423  PMID 16573534 doi:101111/j1365-2052200501409x 
  11. ^ Schmidt-Küntzel, A; Eizirik, E; O'Brien, S J; Menotti-Raymond, M April 2005 "Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci" Journal of Heredity 96 4: 289–301 PMID 15858157 doi:101093/jhered/esi066 
  12. ^ Carr, Steven M "Extensions to Mendelian Analysis" Memorial University of Newfoundland 
  13. ^ a b Online Mendelian Inheritance in Man OMIM Albinism, oculocutaneous, type IA -203100
  14. ^ Online Mendelian Inheritance in Man OMIM Huntington disease -143100
  15. ^ Schomburg I; Chang A; Ebeling C; et al January 2004 "BRENDA, the enzyme database: updates and major new developments" Nucleic Acids Res 32 Database issue: D431–3 PMC 308815  PMID 14681450 doi:101093/nar/gkh081 
  16. ^ Hashimoto K; Nishi H; Bryant S; Panchenko AR June 2011 "Caught in self-interaction: evolutionary and functional mechanisms of protein homooligomerization" Phys Biol 8 3: 035007 PMC 3148176  PMID 21572178 doi:101088/1478-3975/8/3/035007 
  17. ^ a b Marutani M; Tonoki H; Tada M; et al October 1999 "Dominant-negative mutations of the tumor suppressor p53 relating to early onset of glioblastoma multiforme" Cancer Res 59 19: 4765–9 PMID 10519380 
  18. ^ Goh AM; Coffill CR; Lane DP January 2011 "The role of mutant p53 in human cancer" J Pathol 223 2: 116–26 PMID 21125670 doi:101002/path2784 
  19. ^ Chenevix-Trench G; Spurdle AB; Gatei M; et al February 2002 "Dominant negative ATM mutations in breast cancer families" J Natl Cancer Inst 94 3: 205–15 PMID 11830610 doi:101093/jnci/943205 
  20. ^ Pabst T; Mueller BU; Zhang P; et al March 2001 "Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha C/EBPalpha, in acute myeloid leukemia" Nat Genet 27 3: 263–70 PMID 11242107 doi:101038/85820 
  21. ^ Barroso I; Gurnell M; Crowley VE; et al 1999 "Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension" Nature 402 6764: 880–3 PMID 10622252 doi:101038/47254 
  22. ^ Bernstein H; Fisher KM March 1968 "Dominance in bacteriophage T4D" Genetics 58 3: 307–18 PMC 1211863  PMID 5662621 
  23. ^ Online Mendelian Inheritance in Man OMIM Hyperphenylalaninemia, non-PKU mild -261600
  24. ^ Online Mendelian Inheritance in Man OMIM Phenylalanine Hydroxylase; PAH -612349
  25. ^ Carr, Steven M "One Gene, One Enzyme" Memorial University of Newfoundland 
  • "On-line notes for Biology 2250 – Principles of Genetics" Memorial University of Newfoundland
  • Online Mendelian Inheritance in Man OMIM Hemoglobin—Beta Locus; HBB -141900 — Sickle-Cell Anemia
  • Online Mendelian Inheritance in Man OMIM ABO Glycosyltransferase -110300 — ABO blood groups

External linksedit

  • "Online Mendelian Inheritance in Man" OMIM
  • "Autosomal dominance of Huntington's Disease" Huntington's Disease Outreach Project for Education at Stanford
  • "Examples of incomplete dominance" YouTube

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