This chapter delves into the age-old nature versus nurture debate, exploring the factors that mold our individuality. As Margaret Mead observed, our distinctiveness arises from a blend of life experiences and inherent traits. Even identical twins exhibit subtle distinctions. We scrutinize whether our abilities stem from innate brain maturation or learned experiences, with nativists and empiricists offering opposing perspectives. The chapter introduces two key concepts for understanding human development. First, we explore genes – their nature, role in development, and contribution to human diversity. We delve into the intricate mechanisms governing gene expression, including the impact of epigenetics. Second, we examine how the mature brain evolves from prenatal origins, shaped by genetics and epigenetics. We challenge the notion that genes alone dictate our identities, emphasizing the dynamic interplay between genes and the environment. We avoid the term innate, recognizing the remarkable adaptability of the human brain–gene system. Our aim is to embrace the intricate interplay of genetics and environment, unveiling the path from genotype to phenotype – the observable expression of our genetic makeup.

The gibbons (family Hylobatidae) occupy a key node in the primate phylogenetic tree. They are characterised by an accelerated rate of evolutionary chromosomal rearrangements. To date, despite much effort, the phylogeny of gibbons remains largely unresolved at the genus level, likely due to rapid divergence of the four genera approximately 5 million years ago. In this chapter we discuss various approaches used to untangle the complex phylogeny of the gibbons. We highlight the unique branching pattern of the gibbon tree, which suggests that the four genera diverged over short evolutionary time. Furthermore, we review how cutting-edge DNA sequencing technologies have improved our understanding of the evolution of the gibbon genome and how this can guide conservation efforts. In particular, we describe the mechanisms that have contributed to the highly rearranged karyotypes of the gibbon genera and how the birth and consequent propagation of the gibbon-specific transposable element LAVA might have shaped the evolution of this lineage by inserting within nearby genes involved in chromosome segregation and DNA repair. As more genetic resources and data are generated from gibbon species, we will gain further insight into the evolutionary history and enable progress towards generating greater infrastructures to conserve these threatened species.

This paper synthesizes evidence for the origin and spread of the Indo-European languages from three disciplines – genomic research, archaeology, and, especially, linguistics – to reassess the validity of the Anatolian and Steppe Hypotheses. Research on ancient DNA reveals a massive migration off the steppe c. 2500 BCE, providing exceptionally strong support for the Steppe hypothesis. However, intriguing questions remain, such as why ancient Greek and Indo-Iranian populations had a smaller proportion of steppe ancestry, and Anatolian apparently had none at all. Lexical and archaeological evidence for wheels and looms provides essential clues about the early separation of Anatolian from the Indo-European community and the late entrance of Greek into the Aegean area. Evidence from the morphologies of the Indo-European languages supports these findings: the morphological patterns of the Anatolian languages show clear archaism, implying earlier separation, while the morphologies of Indo-Iranian and Greek display an array of similarities pointing to relatively late areal contact. Both the lexical and the morphological evidence, then, alongside the genomic and archaeological record, suggests that the Steppe hypothesis offers a preferable solution. Ultimately, these conclusions demonstrate the need for more dynamic models of change, including considerations of contact, stratification, and cross-disciplinary approaches.

To understand what genes “do,” we have to consider what happens during development. The first and most striking evidence that the local environment matters for the outcome of development was provided by the experiments of embryologists Wilhelm Roux and Hans Driesch in the late nineteenth and early twentieth centuries. Roux had hypothesized that during the cell divisions of the embryo, hereditary particles were unevenly distributed in its cells, thus driving their differentiation. This view entailed that even the first blastomeres (the cells emerging from the first few divisions of the zygote – that is, the fertilized ovum) would each have different hereditary material and that the embryo would thus become a kind of mosaic. Roux decided to test this hypothesis. He assumed that if it were true, destroying a blastomere in the two-cell or the four-cell stage would produce a partially deformed embryo. If it were not true, then the destruction of a blastomere would have no effect. With a hot sterilized needle, Roux punctured one of the blastomeres in a two-cell frog embryo that was thus killed. The other blastomere was left to develop. The outcome was a half-developed embryo; the part occupied by the punctured blastomere was highly disorganized and undifferentiated, whereas those cells resulting from the other blastomere were well-developed and partially differentiated. This result stood as confirmation for Roux’s hypothesis.

During the 1970s, more puzzling observations were made. The first was that the genome of animals contained large amounts of DNA with unique sequences that should correspond to a larger number of genes than anticipated. It was also observed that the RNA molecules in the nuclei of cells were much longer than those found outside the nucleus, in the cytoplasm. These observations started making sense in 1977, when sequences of mRNA were compared to the corresponding DNA sequences. It was shown that certain sequences that existed in the DNA did not exist in the mRNA, and that therefore they must have been somehow removed. It was thus concluded that the genes encoding various proteins in eukaryotes included both coding sequences and ones that were not included in the mRNA that would reach the ribosomes for translation. These “removed” sequences were called introns, to contrast them with the ones that were expressed in translation, which were called exons. The procedure that removed the intron sequences from the initial mRNA and that left only the exon sequences in the mature mRNA was named “RNA splicing.”

One important, and for some the most surprising, conclusion of genome-wide association studies (GWAS) has been that in most cases numerous single nucleotide polymorphism (SNPs) in several genes were found to be associated with the development of a characteristic or the risk of developing a disease. As already mentioned, the main conclusion has been that the relationship between genes and characteristics or diseases is usually a many-to-many one, as many genes may be implicated in the same condition, and the same gene may be implicated in several different conditions. In fact, the same allele may be protective for one disease but increase the risk for another. For example, a variation in the PTPN22 (protein tyrosine phosphatase, nonreceptor type 22) gene on chromosome 1 seems to protect against Crohn’s disease but to predispose to autoimmune diseases. In other cases, certain variants are associated with more than one disease, such as the JAZF1 (JAZF1 zinc finger 1) gene on chromosome 7 that is implicated in prostate cancer and in type 2 diabetes. Therefore, we should forget the simple scheme of gene 1 → condition 1/gene 2 → condition 2, and adopt a richer – and certainly more complicated – representation of the relationship between genes and disease. Additional GWAS on more variants in larger populations might provide a better picture in the future. But insofar as we do not understand all biological processes in detail, all we are left with are probabilistic associations between genes and characteristics (or diseases). The “associated gene” may be informative, but its explanatory potential and clinical value are limited – at least for now.

This chapter is about the public image of genes. But what exactly do we mean by “public”? Here, I use the word as a noun or an adjective vaguely, in order to refer to all ordinary people who are not experts in genetics. I thus contrast them with scientists who are experts in genetics – that is, who have mastered genetics-related knowledge and skills, who practice these as their main occupation, and who have valid genetics-related credentials, confirmed experience, and affirmation by their peers. I must note that both “experts” and “the public” are complex categories that depend on the context and that change over time. There is no single group of nonexperts that we can define as “the” public, as people around the world differ in their perceptions of science, depending on their cultural contexts. We had therefore better refer to “publics.” The differences among experts nowadays might be less significant than those among nonexperts, given today’s global scientific communities, but they do exist. Finally, both the categories of experts and publics have changed across time, depending, on the one hand, on the level of experts’ knowledge and understanding of the natural world, and, on the other hand, on publics’ attitudes toward that knowledge and understanding.

If you were taught Mendelian genetics at school (see Figures 2.1 and 2.2) you should be aware that it is an oversimplified model that does not work for most cases of inherited characteristics. Human eye color is a textbook example of a monogenic characteristic. It refers to the color of the iris – the colored circle in the middle of the eye. The iris comprises two tissue layers, an inner one called the iris pigment epithelium and an outer one called the anterior iridial stroma. It is the density and cellular composition of the latter that mostly affects the color of the iris. The melanocyte cells of the anterior iridial stroma store melanin in organelles called melanosomes. White light entering the iris can absorb or reflect a spectrum of wavelengths, giving rise to the three common iris colors (blue, green–hazel, and brown) and their variations. Blue eyes contain minimal pigment levels and melanosome numbers; green–hazel eyes have moderate pigment levels and melanosome numbers; and brown eyes are the result of high melanin levels and melanosome numbers. Textbook accounts often explain that a dominant allele B is responsible for brown color, whereas a recessive allele b is responsible for blue color (Figure 4.1). According to such accounts, parents with brown eyes can have children with blue eyes, but it is not possible for parents with blue eyes to have children with brown eyes. This pattern of inheritance was first described at the beginning of the twentieth century and it is still taught in schools, although it became almost immediately evident that there were exceptions, such as that two parents with blue eyes could have offspring with brown or dark hazel eyes.

Perhaps you were taught at school that genetics began with Gregor Mendel. Because of his experiments with peas, Mendel is considered to be a pioneer of genetics and the person who discovered the laws of heredity. According to the model of “Mendelian inheritance,” things are rather simple and straightforward with inherited characteristics. Some alleles are dominant – that is, they impose their effects on other alleles that are recessive. An individual who carries two recessive alleles exhibits the respective “recessive” characteristic, whereas a single dominant allele is sufficient for the “dominant” version of the characteristic to appear. In this sense, particular genes determine particular characteristics (e.g., seed color in peas), and particular alleles of those genes determine particular versions of the respective characteristics. Mendel, the story goes, discovered that characteristics are controlled by hereditary factors, the inheritance of which follows two laws: the law of segregation and the law of independent assortment.

What could explain the evolution of the architecture of self-reflection, as outlined so far? According to Section 4.1, any such explanation faces a variety of formidable puzzles, such as the human uniqueness of self-reflection, the absence of a specialized DNA basis, the absence of a dedicated brain location, the inward turn of the self-reflective mind, and the apparent recency and speed of its evolution. To handle these puzzles and explain why and how young human minds respond in unprecedented ways to the selection pressures they face in mid-childhood and later, the remaining sections of the chapter assemble an evolutionary paradigm that finds revealing and fruitful explanatory connections among recent and independently elaborated approaches in three distinct research areas – genetics (Section 4.2), brain organization (Section 4.3) and, most importantly, developmental evolution (Section 4.4).

The abnormal animal that introduces this chapter is a fly with no bristles. It turns out that flies "know" where to make bristles based on a GPS system of area codes in their genome. Humans probably have one too, but no one has located it yet. The chapter discusses the evolution of nakedness in humans and the genetics of why.

The genome encodes the information needed to make us human, but genes do not directly cause growth and development. Gene expression is regulated and mediated by several biological systems, especially the neurological and endocrine (neuroendocrine) systems. Hormones regulate and coordinate critical developmental processes, integrating across several systems, including the central nervous system, the reproductive system, and the digestive system. Hormones are influenced by nutritional status and infections. Therefore, hormones provide a mechanism by which “real-time” information about a body’s health is communicated to the brain and processed by its regulatory centers in the hypothalamus and pituitary, through which growth is affected accordingly.