Name: polygenic traits in human height
Uploaded: 2019-03-11T09:21:17.000Z
Duration: 1 min 18 s
Channel: JoVE

K12 Standards

Alabama Course of Study Science

9-12

Biology

heredity-inheritance-and-variation-of-traits

Heredity: Inheritance and Variation of Traits

9-12.B.3.11.b

Polygenic Traits

When multiple genes collaborate to influence a phenotype, the result is a polygenic, or many gene, trait.

One such characteristic is human height, which is believed to be influenced by hundreds of loci. Although each gene generally has a minimal role in determining tallness, their effects add up to establish how large an individual will be at adulthood.

Partly due to the sheer number of genes involved, human height varies considerably. For instance, the minimum of height of adult females in a population might be approximately five feet, while the maximum is about six. However, women of all sizes in between exist.

Graphing such height distribution reveals a bell shaped curve. Only a few women approach the minimum or maximum and the majority are near the average, five and a half feet all.

So, sometimes a single phenotype like height, resulting from several genetic factors, can be quantified and graphed. Importantly, this applies to many other polygenic characteristics like weight, blood pressure, and even the number of ridges in fingerprints.

polygenic traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the minimum or maximum heights and the majority of the population in the middle height range. Most polygenic traits, like weight, blood pressure, and aspects of fingerprint patterns, also plot as bell-shaped curves.

<h4>Human Height&mdash;a Polygenic Trait</h4>

Although Mendel&rsquo;s seminal work on genetic inheritance focused on traits that arose from single genes, experiments such as genome-wide association studies have revealed that many human traits develop through the cooperation of multiple gene products. The collaboration of numerous genes to influence a phenotype constitutes a polygenic (i.e., &ldquo;many gene&rdquo;) trait.

One example of a polygenic trait is human height. Hundreds of loci are implicated in human height variability, and it is believed that there are more that have not yet been identified. Many of these genes directly or indirectly affect cartilage in growth plates, which are found in the long bones of the arms and legs.

<h4>Population Distribution of Polygenic Traits</h4>

Human height varies considerably, in part due to a large number of genes that influence it. Height is also affected by environmental and nutritional factors, such as whether or not the mother smoked during pregnancy, the mother&rsquo;s diet during pregnancy, and the offspring&rsquo;s diet.

In a population in which the minimum female height is approximately five feet, and the maximum female height is about six feet, women of all heights in between these values are present. Plotting the height distribution results in a bell-shaped curve, with relatively few women approaching the minimum or maximum heights and the majority exhibiting heights near the average of five-and-a-half feet. Most polygenic traits, such as weight, blood pressure, and aspects of fingerprint patterns, like the number of ridges, also take on bell-shaped distributions due to the high number of possible combinations of alleles.

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered ...

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KEY TERMS AND CONCEPTS

polygenic traits in human height

Polygenic traits are traits controlled by more than one gene. Human height is a clear example of this kind of inheritance. Because many genes work together, the final trait can vary a lot from person to person.

Researchers have found hundreds of loci, or gene locations, that influence height. There are likely many more that have not yet been identified. Many of these genes affect cartilage in the growth plates of the long bones in the arms and legs, either directly or indirectly.

Height is also shaped by environmental and nutritional factors. These include whether the mother smoked during pregnancy, the mother’s diet during pregnancy, and the offspring’s diet. This is one reason height can differ so much within a population.

When height is plotted for a population, it usually forms a bell-shaped curve. Few people are close to the minimum or maximum heights, and most fall near the middle range. Other polygenic traits, such as weight, blood pressure, and some fingerprint features like ridge number, often show the same pattern because so many allele combinations are possible.

Polygenic Traits in Human Height

genetic lingo

Genotype, Phenotype, and Inheritance

Genotype, phenotype, and inheritance help explain how traits and disease risk are passed from parents to offspring. In diploid organisms, including humans, most other animals, and many plants, somatic cells carry a duplicate set of chromosomes. These chromosome pairs are homologous, with similar length, centromere position, and gene locations. Diploid organisms inherit two versions of each gene, one from each parent. These versions are called alleles, and they sit at the same relative locus,...

punnett squares

Punnett Squares for Predicting Traits

Punnett squares help predict which traits offspring may inherit from two parents. They show possible genotypes, which are pairs of alleles, and can also show the chance of a phenotype, or visible trait, when the inheritance pattern is known. These grids work best for traits controlled by a single gene locus and passed on independently during meiosis. Punnett squares were developed in the early 1900s by Reginald Punnett. His work came after Gregor Mendel’s pea plant experiments revealed the...

monohybrid crosses

Mendel’s Pea Plant Inheritance Ratios

Gregor Mendel used pea plants to study how traits are passed from parents to offspring. His breeding experiments in the 1850s and 1860s showed that inheritance follows clear patterns. He crossed true-breeding plants that differed in one trait and found that dominant traits can hide recessive traits. Mendel focused on seven pea plant traits, and each trait had two forms controlled by a single gene locus. He noticed that true-breeding plants always produced offspring with the same phenotype, or...

dihybrid crosses

Mendel's Law of Independent Assortment

Mendel’s law of independent assortment explains how two traits can be inherited separately. Gregor Mendel tested this idea with pea plants that differed in two characteristics, such as pea color and pea shape. He used true-breeding parents that were homozygous for both traits but showed different phenotypes. In one example, Mendel crossed round, yellow peas with wrinkled, green peas. The parental generation had RRYY and rryy genotypes. Their first-generation offspring were all dihybrids,...

law of segregation

Mendel’s Pea Cross Ratios

Mendel’s pea plant crosses show how traits can disappear in one generation and return in the next. When he crossed plants, one parental trait sometimes seemed to vanish in the F1 generation and reappear in the F2 generation. Mendel used this pattern to explain why some traits are dominant and others are recessive. He proposed that traits are controlled by alleles, which are different versions of a gene. An organism inherits two copies of each gene, one from each parent. In his model, a...

probability laws

Inheritance Risk with Sum and Product Rules

Inheritance risk can be calculated with the sum rule and the product rule. The sum rule applies to mutually exclusive events, or events that cannot happen at the same time. The product rule applies to independent events, or events that do not affect one another. These rules describe theoretical probability, which is the chance of an event before it happens. Empirical probability is different because it is based on events that have already occurred. These probability rules are useful in...

law of independent assortment

Mendel’s Dihybrid Cross and Trait Ratios

Mendel’s dihybrid cross shows how two traits are inherited at the same time. A dihybrid cross is a cross in which both parents are homozygous for two distinct traits, and the F1 generation is heterozygous for both traits. Mendel used pea plants with round yellow peas and wrinkled green peas as an example. One parent had genotype YYRR, and the other had genotype yyrr. In the F1 generation, every plant showed the dominant traits, so the plants were YyRr and had yellow, round peas. The F2...

test cross

Using Test Crosses to Identify Genotypes

Test crosses are used to identify the genotype of an organism with a dominant trait. A genotype is the pair of alleles inherited for a gene, and alleles are different forms of the same gene. In diploid organisms, including humans, each gene usually has two alleles, one from each parent. An allele is recessive when its effect is hidden by another allele at the same gene location. Pea plants provide a clear example with flower color. White flowers are recessive, because one copy of the purple...

Polygenic traits are traits controlled by more than one gene. Human height is a clear example of this kind of inheritance. Because many genes work together, the final trait can vary a lot from person to person. Researchers have found hundreds of loci, or gene locations, that influence height. There are likely many more that have not yet been identified. Many of these genes affect cartilage in the growth plates of the long bones in the arms and legs, either directly or indirectly. Height is...

pedigree analysis

Reading Family Traits in Pedigrees

Pedigrees are family trees used to track how a trait passes through generations. They help scientists and students see whether a trait is dominant or recessive, whether it is autosomal or sex-linked, what genotypes family members may have, and what phenotypes may appear in future generations. For families with a history of inherited disease, this information can be important for family planning. In plants and animals, inheritance is often studied with crosses. Monohybrid crosses can show...

multiple allele traits

Blood Type and Allele Interactions

Multiple alleles can shape traits through blood type, sickle cell anemia, incomplete dominance, and codominance. Multiple allelism means a gene has three or more allelic forms. Diploid organisms, including humans, usually carry only two alleles for each gene, but many human genes exist in multiple forms in the population. Human blood type is a clear example of multiple allelism. The blood type gene has three alleles: I A , I B , and i. These alleles help determine which blood type a person has...

epistasis

Gene Masking in Rabbit Fur Color

Epistasis describes how one gene can mask or change the effect of another gene. In high school genetics, this helps explain why many traits do not follow a simple single-gene pattern. Instead, alleles at different locations can work together to shape the final phenotype. Mendel studied seven unrelated pea traits, but most traits involve multiple gene interactions. Epistasis often happens when one gene interferes with the expression of another gene. It can also occur when genes are part of the...

nature and nurture

Genes and Environment Shape Height

Genes and environment both shape human height and other traits. Genes are the inherited instructions we get from our parents. Environment includes factors such as diet, stress, and social conditions. Many phenotypes, or observable traits, reflect both influences. Some also show up later in life, including cancer and other diseases. Height is a clear example of this interaction. Scientists estimate that 70-90% of height variation comes from genetic differences among people. The remaining 10-30%...

pleiotropy

SOX10 and Multiple Traits in Pleiotropy

Pleiotropy is when one gene affects more than one trait. The SOX10 gene is a clear example because it can influence pigmentation, hearing, and intestinal movement. These traits may seem unrelated, but they can all be linked to the same gene change. In humans, a deleted region in SOX10 can cause Waardenburg Syndrome Type 4, or WS4. WS4 is an autosomal recessive disorder, which means a person usually inherits two altered copies of the gene. Common signs include a white forelock,...

sex-linked disorders

X- and Y-Linked Disorder Patterns

X- and Y-linked disorders come from mutations in genes on the sex chromosomes. These genes, like those on autosomes, are needed for normal body function. When a mutation causes a biological problem, the condition is called sex-linked. Y-linked disorders come from changes in the Y chromosome. They affect only males, because only males carry a Y chromosome. Mutations in this small chromosome can affect male sexual function and secondary sex characteristics. One example is Y-chromosome...

x-linked traits

X-Linked Inheritance in Families

X-linked inheritance explains how traits on the X chromosome are passed through families. In most mammalian species, females have two X sex chromosomes, while males have one X and one Y. A mutation on one X chromosome may be masked in females by a normal allele on the other X. In males, that same mutation is more likely to show because there is no second normal X to balance it. Traits caused by changes on the X chromosome are called X-linked traits. Color blindness is a well-studied example.

x-inactivation

Barr Bodies and X-Chromosome Balance

Barr bodies and X-chromosome balance help explain how female mammalian cells control gene activity from the X chromosome. The human X chromosome carries far more genes than the Y chromosome. Because males usually have one X chromosome and females have two, females would make twice as many of some proteins without a control system. To prevent that imbalance, female mammalian cells inactivate nearly all the genes on one X chromosome during early embryonic development. The inactive X condenses...

non-nuclear inheritance

Maternal DNA in Mitochondria and Chloroplasts

Maternal DNA in mitochondria and chloroplasts explains how some genes are inherited outside the nucleus. Most DNA is in the nucleus, but mitochondria and chloroplasts in the cell cytoplasm also carry their own DNA and can copy it independently of nuclear DNA. Mitochondria are found in both plant and animal cells. They are called the powerhouses of eukaryotic cells because they break down glucose to make energy for cellular activity. Mitochondrial DNA has about 37 genes, and many help with...

chromosomal theory of inheritance

How Genes Map to Chromosomes

Genes map to chromosomes, and this idea explains how Mendel’s inheritance patterns work. Gregor Mendel published his pea plant breeding results in 1866. He showed that physical traits follow predictable patterns. At the time, scientists did not yet know that genes existed. Mendel used the word "factors" for the hereditary units he studied. The details behind Mendel’s laws of segregation and independent assortment were still unknown for many years. In the late 1800s, better microscopes and...

key terms and concepts

Explore how multiple genes and environmental factors shape human height, and why polygenic traits often form a bell-shaped curve in populations.

Polygenic Traits in Human Height | JoVE K12

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Inheritance and Variation of Traits

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Chi-square Analysis

The chi-square test is a statistical hypothesis test. It is used to check whether there is a significant difference between an expected value and an ...

Pedigree Analysis

Probability Laws

Overview

The probability of inheriting a trait can be calculated using the sum and product rules. The sum rule is used to calculate the probability of ...

11. Use probability and statistical models to explain the variation of expressed traits within a population. Examples: pedigree charts, family and population studies

9-12.B.3.11

Punnett Squares

Monohybrid Crosses

Dihybrid Crosses

Trihybrid Crosses

Trihybrid Crosses
Some of Mendel&#8217;s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A ...

Law of Independent Assortment

Multiple Allele Traits

Incomplete Dominance

Gregor Mendel&#39;s work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid ...

Lethal Alleles

Agouti: A Lethal Allele
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background-and-environment-affect-phenotype

Background and Environment Affect Phenotype

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The Y Chromosome Determines Maleness

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Dosage Compensation

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X-inactivation

Blood Types

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Blood Transfusion and Agglutination

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a. Use mathematics and computational thinking to predict patterns of inheritance, including dominance, recessiveness, codominance, and incomplete dominance. Examples: Use a Punnett square to illustrate codominance in genes for blood types. Use probability rules to predict the phenotypes of offspring from different parental combinations.

9-12.B.3.11.a

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence ...

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause ...

Nature and Nurture

Many human characteristics, like height, are shaped by both nature&mdash;in other words, by our genes&mdash;and by nurture, or our environment. For ...

b. Obtain, evaluate, and communicate information about how the interplay of heritable risk factors, somatic mutations, and environment influences human disease. Examples: Because heart disease has heritable and environmental risk factors, a person's total risk needs to include both factors. Cancers have both heritable (breast, lung, colorectal, skin, cervical cancer) and environmental risk factors (smoking, diet, sun exposure, HPV exposure). Clarification: Epigenetics could be an extension of this standard.

Spermatogenesis

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Oogenesis

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What is Meiosis?

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Meiosis I

Meiosis II

Meiosis vs. Mitosis

Crossing Over

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Nondisjunction

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Karyotyping

12. Develop and use an evidence-based model to illustrate the formation of reproductive cells through the process of meiosis. Example: Use karyotype cutouts to illustrate independent assortment into reproductive cells.

9-12.B.3.12

Homologous Recombination

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Gene Conversion

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Overview of Transposition and Recombination

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Conservative Site-specific Recombination and Phase Variation

Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic ...

a. Construct an explanation of how new genetic combinations and variations occur during crossover.

9-12.B.3.12.a

Organization of Genes

Chromosome Structure

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Chromosome Replication

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Teratogenicity

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Mutagenicity and Carcinogenicity

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Genetic Crosses

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Genetic Screens

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b. Obtain, evaluate, and communicate information about how errors during meiosis and environmental factors affect the expression of traits. Examples: Translocation between chromosomes 8 and 11 can cause myeloproliferative disorder and lymphoma. Smoking and exposure to teratogenic chemicals can alter genes in reproductive cells that can be passed on to offspring.

9-12.B.3.12.b

Polygenic Traits in Human Height

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