The diploid human genome is packaged within 46 chromosomes, as two pairs of 23 discrete elements, into all cells other than the haploid gametic egg and sperm cells. During the reproductive process, each parent's gametes contribute 22 nonsex chromosomes and either one X or one Y chromosome.
The X and Y chromosomes are the sex chromosomes for mammals, including humans. Not only are the X and Y sex chromosomes in mammals physically distinctive, with the Y being smaller, the Y chromosome is exceptionally peculiar. The X chromosome contains considerably more genes than the Y, which has its functionality essentially limited to traits associated with being male. It is the Y chromosome that carries the major masculinity-determining gene (SRY, for sex-determining region Y), which dictates maleness. In a mating pair, if the paternal partner contributes a normal Y chromosome, male gonadal tissues (testes) develop in the offspring. Only males have the potential to transmit a Y chromosome to the next generation, and thus the father's contribution is decisive regarding an offspring's sex.
Since normally only one Y chromosome exists per cell, no pairing between X and Y occurs at meiosis, except at small regions. Normally, no crossing over occurs. Therefore, except for rare mutations that may occur during spermatogenesis, a son will inherit an identical copy of his father's Y chromosome, and this copy is also essentially identical to the Y chromosomes carried by all his paternal forefathers, across the generations. This is in contrast to the rest of his chromosomal heritage, which will be a unique mosaic of contributions from multiple ancestors created by the reshuffling process of recombination.
Sex Determination and Y Chromosome Genes
While SRY is the most dramatic gene affiliated with the Y chromosome, about thirty other genes have been identified. Some notable representatives include AZFa, b, and c, which are associated with spermatogenesis and male infertility, SMCY, associated with the immune response function responsible for transplantation rejection when male tissue is grafted to female tissue, and TSPY, which may play a role in testicular cancer.
Sex Chromosome Evolution and Peculiarities
Discussions of sex chromosome evolution raise the question of the biological risks and benefits of sexual differentiation in organisms. Overall, sexual dimorphism enhances diversity that, in turn, improves the chances for evolutionary change and potential survival during periods of environmental change.
There are risks in the specialization of the Y chromosome, however. Besides its absence in females, lack of recombination for most of its physical territory except at its tips, and the strict pattern of paternal inheritance, the solitary cellular existence of the Y chromosome reduces the opportunity for DNA repair, which normally occurs while pairing during mitosis. This may explain the prevalence of multicopy DNA sequences on the Y, and why many of its genes have lost functionality. In fact, while genes predominately specific to male function tend to accumulate on the Y chromosome, other genes that have functional counterparts elsewhere will atrophy over evolutionary time, through the accumulation of uncorrected mutations. Thus the Y chromosome is slowing evolving toward a composition with fewer and fewer essential genes.
Molecular Anthropology Using the Y Chromosome
The field of molecular anthropology is predicated on the concept that the genes of modern populations encode aspects of human history. By studying the degree of genetic molecular variation in modern organisms, one can, in principle, understand past events. The Y chromosome is uniquely suited to such studies. Secondary applications of Y chromosome variation studies include forensics (criminological investigations, such as determining whether or not an individual has been involved in a crime) and genealogical reconstruction (verifying membership in a particular family's ancestry).
DNA polymers (such as chromosomes) are composed of a four-letter alphabet of chemicals called nucleotide bases. Random unique event mutations in DNA sequences can change the identity of a single base in the DNA molecule. These "spelling changes" are the essential currency of genetic anthropological research.
What is central is the assumption that a particular mutation arose just once in human history, and all men that display such a mutation on their Y chromosome descend from a common forefather on whom the mutation first appeared. The sequential buildup of such mutational events across the generations can be readily determined and displayed as a gene tree. Informally, the last known mutation to accumulate on a particular chromosome can be used to define a particular lineage or branch tip in the tree. As long as the mutational change does not affect the individual's ability to reproduce, it may be preserved and handed down to each succeeding generation, eventually becoming widespread in a population. Such mutations are called polymorphisms or genetic markers.
Since most of the Y chromosome has the special property of not recombining during meiosis, no shuffling of DNA from different ancestors occurs. As a consequence, any Y chromosome accumulates all the mutations that have occurred during its lineal life span and thus preserves the paternal genetic legacy that has been transmitted from father to son over the generations. The discovery of numerous Y chromosome polymorphisms has allowed us to deduce a reliable genealogy composed of numerous distinctive lineages. This concept is analogous to the genealogical relationships maintained by the traditional transmission of surnames in some cultures, although the gene tree approach provides access to a prehistorically deeper set of paternal relationships.
Molecular anthropologists have exploited this knowledge in an attempt to understand the history and evolutionary relationships of contemporary populations by performing a systematic survey of Y-chromosome DNA sequence variation. The unique nature of Y-chromosome diversification provides an elegant record of human population histories allowing researchers to reconstruct a global picture, emblematic of modern human origins, affinity, differentiation, and demographic history. The evidence shows that all modern extant human Y chromosomes trace their ancestry to Africa, and that descendants left Africa perhaps less than 100,000 years (or approximately 4,000 generations) ago.
While variation in any single DNA molecule can reflect only a small portion of human diversity, by merging other genetic information, such as data from the maternally transmitted mitochondrial DNA molecule, and nongenetic knowledge derived from archeological, linguistic, and other sources, we can improve our understanding of the affinities and histories of contemporary peoples.
see also Molecular Anthropology; Polymophisms; Sex Determination; X Chromosome.
Peter A. Underhill
Cavalli-Sforza, Luigi L. Genes, Peoples, and Languages, Mark Seielstad, trans. New York: North Point Press, 2000.
Jobling, Mark, and Christopher Tyler-Smith. "New Uses for New Haplotypes: The Human Y Chromosome, Disease, and Selection." Trends in Genetics 16 (2000): 356-362.
Strachan, Tom, and Andrew P. Read. Human Molecular Genetics. New York: Wiley-Liss, 1996.
Y Chromosome Analysis
Y Chromosome Analysis
In the human, there are normally 46 chromosomes, two sex chromosomes and 22 chromosome pairs for which one copy is inherited from each parent at conception. The sex chromosomes are called the X and the Y chromosome. Everyone needs at least one X chromosome to survive. Females normally have two X chromosomes whereas males typically have one X and one Y chromosome. In the absence of a Y chromosome, babies will develop as females. When the Y chromosome is present, they will develop as males.
The Y chromosome is different from all of the other chromosomes in a couple of different ways. First, it contains the fewest number of genes of any chromosome, far fewer than chromosome 21, the next smallest chromosome. Second, the vast majority of the Y chromosome is composed of heterochro-matin, a form of DNA that does not contain functional genes. Third, the genes that are present on the Y chromosome are critically important in sexual development.
As only males have a Y chromosome, and the presence of the Y chromosome determines male sexual development, the pattern of inheritance is that fathers uniformly transmit the Y chromosome to their sons at conception, and never to their daughters. This allows a tracing of inheritance patterns for genes and other markers on the Y chromosome from father to son down through many generations.
Because the Y chromosome has so much noncoding DNA, there are many different DNA sequence variants that may be identified on the Y chromosome. These non-coding DNA sequences have a very high rate of mutation, and many potentially informative short tandem repeat (STR) sequences that permit a detailed study of paternity and other forensic testing based on DNA sequences.
The Y chromosome has a distinctive pattern of fluorescence (light emission) naturally and also when using certain organic dyes. These properties can be exploited in various ways to identify the presence of semen based on natural fluorescence, or to identify Y-bearing sperm and separate them from X-bearing sperm. Furthermore, chromosomal analysis for the sex chromosomes can be used to predict the sex of a baby prenatally. As of 2005, it is not considered ethical to use chromosome analysis prenatally to facilitate sex selection for parents who desire either a boy or a girl unless there is a sex-linked genetic disease risk.
see also Fluorescence; Sex determination; STR (short tandem repeat) analysis.