Discuss the connection between
genetic inheritance
and
genotype
Identify common inherited and
genetic disorder
s
Describe the ways genes and environments interact
To say that Arjun is outgoing or extraverted would be an understatement. He thrives on time spent with others—loud parties, packed professional conferences, and crowded sports bars. His brother Ajay is more introverted and prefers quiet meals with his partner or a close friend, reading, and solo hikes. Despite their differences in personality, Arjun and Ajay have a strong physical resemblance. Their parents often wonder how their children can look so similar but have such distinct personalities when they have the same biological parents and grew up in the same home.
To understand how human development occurs, and how similarities and differences like those observed by Arjun and Ajay’s parents arise, we need to examine the role of genetic inheritance (nature), environment and experiences (nurture), and the interplay between genetic and environmental effects (nurture and nature). Connections between chromosomes, DNA, genes, genetic inheritance, inherited and genetic disorders, and the way our genetics and environments interact contribute to the similarities and individual differences observed across human development.
Chromosomes, DNA, and Genes
The first step in grasping the way genetics influence development is to understand chromosomes, DNA, and genes, and the way each functions within a cell–the focus of the field of molecular genetics. Cells duplicate themselves through a process of cell division called
mitosis
, which allows organisms to grow and replace old or damaged cells. Mitosis accounts for the replication of most types of cells in the body and ensures that each new cell includes all forty-six chromosomes, organized in twenty-three pairs located in the cell nucleus. A
chromosome
is a rodlike structure in the cell nucleus, composed of long molecules of DNA.
DNA (deoxyribonucleic acid)
molecules contain an individual’s genetic information; they coil around each other to form a double helix, a twisted ladderlike structure (Figure 2.2).
A human sex cell—the reproductive cell called a
gamete
—holds only twenty-three chromosomes, one from each pair of parental chromosomes. These cells replicate through a different type of cell division called meiosis. During
meiosis
, a sex cell, whether an
ovum
in a female or a
sperm
cell in a male, splits into two new cells that each also contain only twenty-three chromosomes. Thus, gametes contain only half the genetic information of each parent, ensuring that after fertilization of the ovum, the resulting offspring will have a total of forty-six chromosomes, twenty-three from the biological mother and twenty-three from the biological father. Which particular chromosomes these are is largely random: eight million different combinations are possible, contributing to the wide genetic variation seen among humans.
A human nonsex cell, called an
autosome
, is what is present in chromosome pairs one through twenty-two. The twenty-third pair—the sex chromosomes—may look the same or different (Figure 2.3). The sex chromosomes are called the X and Y chromosomes, based on their shapes. The combination of these chromosomes determines the child’s sex at conception: XX for a biological female and XY for a biological male.
Females have two X chromosomes, so each of their ova contains an X chromosome in the twenty-third position; males have both X and Y chromosomes, so each of their sperm cells contains one or the other, and thereby determines the baby’s sex.
Intersex is an umbrella term for people who have one or more of a range of variations in sex characteristics or chromosomal patterns that do not fit the typical conceptions of male or female; the prefix
inter
- means “between” and refers here to an apparent biological state “between” male and female. There are many causal factors that can make a person intersex; these are often referred to as differences in sex development (DSD), though there is debate over which DSDs make a person intersex. Genetically, the baby may have a different number of sex chromosomes. Rather than two X chromosomes (associated with females) or one X and one Y chromosome (associated with males), babies are sometimes born with an alternative number of sex chromosomes, such as XO (only one chromosome) or XXY (three chromosomes). In other cases, hormonal activity or even chance occurrences in the womb can affect the baby’s anatomy. The number of people born intersex has been expressed to be as high as 1.7 percent of births; however, based on different interpretations of what makes someone intersex, you may see other statistics or ranges quoted (Fausto-Sterling, 2000; Becker, Chin & Bates, 2022).
While some conditions or disorders associated with being intersex may require treatment or intervention, being intersex is not a disorder. The intersex community and many medical groups view surgery to support the assignment of an infant to a specific sex to be unethical and even abusive. For example, Medical ethicist Kevin Behrens (2020) argues that surgical interventions for intersex children should only be carried out when surgery serves the best medical interests of the child.
The most commonly occurring twenty-third chromosome pairings are XX and XY (National Organization for Rare Disorders, n.d.; Genetic and Rare Diseases Information Center, n.d.). However, differences may occur during cell division that result in
aneuploidy
, an atypical number of autosomal or sex chromosomes that may result in various syndromes (Gottlieb et al., 2023; Skuse et al., 2018) (Table 2.1).
Sex Chromosome Combinations
Medical Terminology
Prevalence
XX
Biological female
Majority
XY
Biological male
Majority
XO
Turner syndrome
1 in 2,500 females
XXY
Klinefelter syndrome
1 in 500 to 1,000 males
XXX
Trisomy X
1 in 1,000 females
XYY
XYY syndrome
1 in 1,000 males
XXYY
XXYY syndrome
1 in 18,000 to 50,000 male births
Table 2.1
Types of Sex Chromosomes Combinations
Our genetic inheritance is carried in the genes that make up our chromosomes. A
gene
is a segment of
DNA
that contains the instructions for making proteins that regulate the structure and functioning of the body. It’s estimated that humans have between 20,000 and 25,000 genes (National Human Genome Research Institute, 2022). The rungs of the chromosome’s ladderlike structure, which house the DNA sequence, consist of four nucleic acid bases: guanine (G), adenine (A), thymine (T), and cytosine (C). These nucleic acids pair up in specific ways (Klug et al., 2016). However, not all of our genes code for proteins; some regulate gene expression, or how genes work and interact with each other.
The complete sequence of an organism’s DNA is called its
genome
. Each human being shares about 99.9 percent of their genome with all other humans on the planet; the remaining 0.01 percent contributes to the differences we observe in physical and behavioral differences, as well as the variations in our risk of developing certain types of diseases (Duello et al., 2021; National Human Genome Research Institute, 2022).
Genetic Inheritance
Have you ever wondered why you share some physical characteristics with your biological parents but not others? Maybe you have your mother’s freckles, or perhaps a different eye color than either of your parents. How do these similarities and differences occur?
Recall that humans receive twenty-three chromosomes each from their biological parents’ sperm and ovum. During fertilization, these chromosomes fuse to create one cell with twenty-three pairs of chromosomes, each carrying two copies of each gene. The particular composition of the genes we inherit makes up our unique
genotype
, which cannot be directly observed. Some genes have a slightly different alternate forms, called an
allele
, and the specific alleles in our genotype can lead to differences in gene expression (National Human Genome Research Institute, 2022). These differences, in turn, result in a different
phenotype
, or set of characteristics that can be observed, such as hair or eye color. Biological parents may both give their child the same allele, or each parent may contribute a different allele.
The genes for certain traits, such as eye color, have both dominant and recessive alleles. If an allele is dominant, we need to inherit only one copy of it for the
dominant trait
, such as brown eyes, to be observed. However, we need two copies of a recessive allele, such as that for blue eyes, for the
recessive trait
to be observed. This pattern of inheritance is called the recessive/dominant pattern. If a child inherits the same eye color allele from both parents, the child is considered
homozygous
for this trait. The child who inherits different eye color alleles from both parents is
heterozygous
for this trait (Figure 2.4).
Another inheritance pattern for traits such as hair texture, skin color, and height demonstrates incomplete or partial dominance, which occurs when an individual is heterozygous for a particular trait and neither allele is completely dominant or recessive. The result is
incomplete dominance
, an intermediate phenotype in which both alleles are expressed (Figure 2.5). For instance, if one parent is homozygous for curly hair and the other is homozygous for straight hair, incomplete dominance will result in the child’s having wavy hair, because alleles for both straight and curly hair are simultaneously expressed (Omoto & Lurquin, 2004).
For other traits, a codominant inheritance pattern holds. With a
codominant trait
, an individual inherits both alleles of a gene, and each is fully expressed (National Human Genome Research Institute, 2024). For example, the ABO blood group has three alleles, A, B, and O, all encoded by the same gene. A child will inherit one of these alleles from each parent, which results in one of four possible phenotypes (A, B, AB, or O), commonly known as your blood type (Dean, 2005) (Figure 2.6).
Another factor that can influence the way genes are expressed is whether they are located on the X chromosome, meaning they are X-linked (Figure 2.7). For example, the genes identified for red-green colorblindness, a recessive trait, are located on the X chromosome. Biological males are more frequently affected than biological females by recessive X-linked traits such as red-green colorblindness. Females need to receive the recessive allele for this trait from both biological parents, whereas males need to receive it only from their biological mother.
The traits described rely on one or a few genes, but the vast majority of physical, behavioral, and health traits are a type of
polygenic trait
, meaning they are governed by multiple genes. Together, the effects of all the individual genes add up to create the observed phenotype. Scientists are beginning to identify which combinations of genes are associated with a range of complex traits and diseases such as cognitive ability, major depressive disorder, type 2 diabetes, and coronary heart disease (Tam et al., 2019). Not all the phenotypic variation observed is accounted for by genes, however, environmental factors also contribute to the expression of a trait. Complex traits and diseases are likely a result of
multifactorial inheritance
; that is, their occurrence depends on both genetic and environmental factors.
In addition, a single gene can influence multiple traits and produce a variety of phenotypic outcomes, a characteristic referred to as
pleiotropy
(Figure 2.8). For example, PKU (phenylketonuria) is a single-gene recessive disorder. This mutation results in the ineffective metabolism of phenylalanine (found in milk and other foods), bringing about a variety of issues if untreated, such as cognitive disability, eczema, and delayed growth (Elhawary et al., 2022; Targum & Lang, 2010). Another type of pleiotropic effect occurs when genes referred to as generalist genes affect different but related phenotypes. For example, the same genetic variants are shared across verbal and nonverbal cognitive abilities (Bearden & Glahn, 2017), and shared genetic variants are indicated across several psychiatric disorders (Cross-Disorder Group of the Psychiatric Genomics Consortium, 2019).
Inherited and Genetic Disorders
Genes contribute to all aspects of human development, functioning, and trait expression, including inherited and genetic disorders. There are three main types of genetic disorders: single-gene disorders, chromosomal disorders, and multifactorial inherited disorders.
A
single-gene disorder
occurs in a single gene and can happen in two ways: (1) Individuals may inherit a pair of recessive alleles responsible for a disorder, or (2) mutations to the DNA sequence can result spontaneously, from errors during cell division or from exposure to environmental toxins or other hazards such as x-rays or pollution. Mutations occur when the DNA sequence of a gene is altered; this can occur in a variety of ways but most commonly through a change in a single nucleic acid base pairing substitution. Examples of single-gene disorders include PKU, Tay-Sachs disease, cystic fibrosis, and sickle cell anemia (Table 2.2).
A
chromosomal disorder
is due to errors during cell division and result in structural or numerical abnormalities. Structural abnormalities occur when sections within a chromosome are deleted, duplicated, or inverted (a section of the chromosome flips its orientation), or when sections are rearranged within or across the chromosome pairs. Numerical abnormalities happen during cell division and result in one of the twenty-three chromosome pairs containing only one chromosome (monosomy) or having an extra chromosome (trisomy). For example, individuals with Down syndrome will have three twenty-first chromosomes rather than two (Figure 2.9). Because each chromosome contains a large number of genes, deviation in chromosome number (more or less than two) will affect a range of characteristics.
A disorder resulting from
multifactorial inheritance
occurs when both polygenic effects (controlled by many genes) and environmental effects contribute to a phenotype. Studies have identified several genes that contribute to the risk of developing type 2 diabetes, heart disease, obesity, autism spectrum disorder, and anxiety disorders (Dickerson & Dickerson, 2023; Genovese, & Butler, 2023; Li et al., 2024; National Human Genome Research Institute, 2020b). Many of these disorders are also influenced by multiple genes and a range of environmental influences, such as the prenatal environment, nutrition, socioenvironmental experiences, and environmental conditions.
Known inherited and genetic disorders can be screened for before pregnancy, prenatally, and shortly after birth. Table 2.2 offers an overview of some of these disorders.
Disorder
Prevalence
Symptom Description
Treatments
Phenylketonuria (PKU)
1 in 10,000 to 15,000 live births
Range of intellectual disability, eczema, lighter skin due to pigment defects
Limit on foods containing phenylalanine; nutritional supplements
Tay-Sachs disease
1 in 320,000 live births; more frequent in people of central or eastern European Jewish descent
1 in 3,200 live births; people of European ancestry at highest risk
Thick, sticky mucus that clogs the lungs; vulnerability to pulmonary infections
Treatments to manage symptoms, prevent complications
Sickle cell anemia
1 in 365 live births; Black and African American individuals at greatest risk
Sickle-shaped red blood cells; anemia; acute chest pain; pain episodes; organ damage
Treatments to manage symptoms, recently approved cell-based gene therapy
Fragile X syndrome
1 in 7,000 male and 1 in 11,000 female live births
Mild to moderate learning disabilities; distractibility and impulsivity
Early intervention, special education, treatment for attention-deficit/hyperactivity disorder (ADHD)
Down syndrome
1 in 1,000 live births
Range of intellectual disabilities; unique facial features; poor muscle tone; possible heart, digestion, or hearing problems
Physical, occupational, speech, and educational therapy; medical intervention as needed
Table 2.2
Examples of Inherited and Genetic Disorders
(sources: Centers for Disease Control and Prevention, 2024a, 2024b; Elhawary et al., 2022; National Human Genome Research Institute, 2013, 2014, 2020a; Ramani & Sankaran, 2023; U.S. Food and Drug Administration, 2023)
Gene Environment Intersections
Genetic research has helped us understand human traits that rely on one or two genes. However, most human traits, such as personality traits, are more complex and result from a combination of genetic (nature) and environmental (nurture) influences. Understanding how, and how much, genes and environments influence gene expression together is the focus of the field of
behavioral genetics
. As described in 1.2 Themes of Development,
heritability estimate
s indicate the degree to which genetics contribute to individual differences for a trait within a population. A high heritability estimate, near 100 percent, indicates that genetic effects explain a lot of variability within a population; a low heritability, closer to 0 percent, indicates that most of the variability is environmental (Mayhew & Meyre, 2017) (Table 2.3).
The goal of behavioral genetics is to explain 100 percent of the observed variance for a trait. Interpreting a heritability estimate also reveals to what degree environmental influences account for differences in a trait. For example, the heritability of intelligence is 50 percent, which means that genetics explains half the observed differences in this complex trait, and the remaining 50 percent is due to environmental effects. Note that heritability is a population statistic and cannot be applied to a specific individual. In other words, heritability can’t tell you how much your intelligence is due to the specific genes you inherited. Consider the examples in Table 2.3.
Trait
Heritability
Height
80–90 %
Blood pressure
30–70 %
Intelligence
50 %
Big Five personality traits
40–60 %
Autism spectrum disorder
64–91 %
Depression
37 %
Alcohol dependence
50 %
Table 2.3
Heritability Estimates for Common Human Traits
(sources: Doris, 2010; Plomin & von Stumm, 2018; Power & Pluess, 2015; Schrempft et al., 2018; Sullivan et al., 2000; Tick et al., 2015; Verhulst et al., 2014)
Heritability helps us understand understand the magnitude of individual genetic and environmental effects on a complex trait. But how do genes and environments work together to create the range of phenotypes observed for traits like personality or depression? The answer involves exploring the way genetic and environmental effects are intertwined via epigenetic effects, gene and environment interactions (G × E), and gene and environment correlations (rGE), and epigenetic effects.
Epigenetics
As you learned in 1.2 Themes of Development,
epigenetics
investigates the way environments, experiences, and behaviors influence the expression of inherited genes without altering the DNA sequence of those genes (National Human Genome Research Institute, 2022). How do epigenetic effects influence gene expression? One common way
gene expression
is regulated is by the addition and removal of chemical tags through the process of
DNA methylation
(Figure 2.10). The addition of methyl groups to the nucleotide base(s) of the gene, prevents expression of or silences the gene. Conversely, when a methyl group is removed from the nucleotide base(s) of the gene, it increases gene expression (Moore et al., 2012; Villicaña & Bell, 2021).
Epigenetic effects can be activated by chemical and environmental exposures such as (lead, air and water pollutants, PCBs, and BPA), diet and food availability (such as lack of folate, or prenatal malnutrition), lifestyle habits (such as smoking, high alcohol consumption, stress, and exercise), and a range of drug treatments (Toraño et al., 2016). These can occur throughout the lifespan and are linked to increased risks for chronic illness and disease and development of mental and physical health issues. Early studies of epigenetic effects examined the records of children whose mothers were pregnant during the Dutch famine of 1944–1945 during World War II (Heijmans et al., 2008). Prenatal exposure to the famine was linked to a greater risk for the development of type 2 diabetes and heart disease later in life (De Rooij et al., 2021). The children of mothers exposed to prenatal famine were larger at birth, while the children of fathers exposed to prenatal famine were heavier in adulthood (De Rooij et al., 2021). These studies indicate that epigenetic effects may be transmitted to future generations.
More recent investigations have focused on the effects of early childhood stress exposure. In children who had experienced earlier traumatic events, often called adverse childhood experiences, epigenetic effects were observed in areas of the brain that control the stress response. These children were more reactive to stress, even low levels, and more prone to depression and anxiety due to the epigenetic changes identified (Turecki & Meaney, 2016). Whether epigenetic effects are passed to the next generation in humans is just beginning to be examined. Although the chemical tags connected to epigenetic effects are usually removed during gamete production, research suggests some can be passed to future generations in animals (Gillette et al., 2018).
Regardless of whether epigenetic effects are passed to the next generation, providing health services and nutritional support to pregnant individuals, infants, and toddlers can reduce preventable illnesses with long-lasting implications that occur through epigenetic mechanisms (National Scientific Council on the Developing Child, 2010). For example, improved health care, exercise, and nutritional resources may serve as important environmental epigenetic factors that can improve mental and physical health. Nutrition and exercise show promise as protective factors in reducing risks of metabolic disease and other health risks (Abraham et al., 2023; Bekdash, 2024).
Genotype × Environment Interactions
Another way genes and environments work together to create a
phenotype
is through a
genotype × environment interaction
. In these events, the effect of the genotype (nature) on a phenotype (observed trait) depends on our environment (nurture). In other words, some genes will have an effect only under certain environmental conditions.
A classic example of a genotype × environment interaction is PKU (Widaman, 2009). Recall that
PKU
is a recessive disorder but will negatively affect development only if a low-phenylalanine diet isn’t followed. A genetic risk (two affected alleles) must interact with a high-risk environment (a high-phenylalanine diet) for the PKU phenotype to occur. Other gene × environment interaction models indicate that some genotypes may show differential susceptibility, which means they are sensitive to both protective and risk environments. A group of adolescent males with the short allele of a certain gene associated with serotonin reported more depressive episodes when experiencing lower family support, and fewer episodes with more family support. However, this interaction was not found for the long allele of this gene (Li et al., 2013).
As mentioned in Chapter 1 Lifespan Psychology and Developmental Theories, there are several types of
genotype-environment correlation
s, which indicates that our genes and environments are not randomly distributed but are instead connected.
Gene and Environment Correlations
The understanding of how gene and environment interact suggests that our genes play a role in shaping our environments and experiences. Three types of genotype-environment correlations (rGEs) are evident across the lifespan: passive, evocative, and active (Plomin et al., 1977; Scarr & McCartney, 1983).
A
passive genotype-environment correlation
occurs when biological parents provide both the genes and environment for children. Therefore, children inherit a genotype that covaries, or varies in correlation with, their family’s environment. For example, if your inherited genes predispose you for musical ability, and you are raised by biologically related caregivers, you are also likely to be provided a family environment that supports musicality. For example, the father already had a drum set and the mother regularly plays ukulele. This type of genotype-environment correlation is observed during infancy and early childhood when children have little control over their environment.
An
evocative (or reactive) genotype-environment correlation
is evident when an individual’s genetically influenced traits or behaviors evoke a response from those around them. In other words, people evoke environmental effects that covary with their genetic predispositions. For example, an inclination for musical ability will likely be noticed by a music teacher, who works with the individual challenging music pieces and encourages trying out for the school orchestra. Evocative genotype-environment correlations steadily occur across the lifespan, from infancy through late adulthood.
An
active genotype-environment correlation
is present when our genes influence the experiences and environments an individual seeks out or selects to match their genetic predispositions. In other words, people construct environments that covary with their genotypes. This effect is also referred to as
niche-picking
, which means we actively choose the environment (niche) where we feel most comfortable. In this example, you recognize your musical ability and select environments and experiences that allow you to pursue personal and professional opportunities connected to music. Active genotype-environments increase over the lifespan as individuals gain more control over their environment.
The interplay between genes and environment is challenging to untangle. For any given human behavior, multiple connections and mutual influences between genotypes and environments work together to create the similarities and differences observed across human behavior (Figure 2.11).
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