Y chromosome in the context of Androgen insensitivity syndrome

Sex is the biological trait that determines whether an anisogamous sexually reproducing organism produces male or female gametes. During sexual reproduction, a male and a female gamete fuse to form a zygote, which develops into an offspring that inherits traits from each parent. By convention, organisms that produce smaller gametes (spermatozoa, sperm) are called male, while organisms that produce larger gametes (ova, often called egg cells) are called female. An organism that produces both types of gamete is a hermaphrodite.

In non-hermaphroditic species, the sex of an individual is determined through one of several biological sex-determination systems. Most mammalian species have the XY sex-determination system, where the male usually carries an X and a Y chromosome (XY), and the female usually carries two X chromosomes (XX). Other chromosomal sex-determination systems in animals include the ZW system in birds, and the XO system in some insects. Various environmental systems include temperature-dependent sex determination in reptiles and crustaceans.

A man is an adult male human. Before adulthood, a male child or adolescent is referred to as a boy.

Like most other male mammals, a man's genome usually inherits an X chromosome from the mother and a Y chromosome from the father. Sex differentiation of the male fetus is governed by the SRY gene on the Y chromosome. During puberty, hormones which stimulate androgen production result in the development of secondary sexual characteristics that result in even more differences between the sexes. These include greater muscle mass, greater height, the growth of facial hair and a lower body fat composition. Male anatomy is distinguished from female anatomy by the male reproductive system, which includes the testicles, sperm ducts, prostate gland and epididymides, and penis. Secondary sex characteristics include a narrower pelvis and hips, and smaller breasts and nipples.

In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (de novo) or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incomplete dominance, in which a gene variant has a partial effect compared to when it is present on both chromosomes, and co-dominance, in which different variants on each chromosome both show their associated traits.

Dominance is a key concept in Mendelian inheritance and classical genetics. Letters and Punnett squares are used to demonstrate the principles of dominance in teaching, and the upper-case letters are used to denote dominant alleles and lower-case letters are used for recessive alleles. An often quoted 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 (homozygous) individuals have round peas, and the rr (homozygous) individuals have wrinkled peas. In Rr (heterozygous) individuals, the R allele masks the presence of the r allele, so these individuals also have round peas. Thus, allele R is dominant over allele r, and allele r is recessive to allele R.

As with all modern European nations, a large degree of 'biological continuity' exists between Bosnians and Bosniaks and their ancient predecessors with Y chromosomal lineages testifying to predominantly Paleolithic European ancestry. Studies based on bi-allelic markers of the NRY (non-recombining region of the Y-chromosome) have shown the three main ethnic groups of Bosnia and Herzegovina (Bosniaks, Bosnian Serbs and Bosnian Croats) to share, in spite of some quantitative differences, a large fraction of the same ancient gene pool distinct for the region. Analysis of autosomal STRs have moreover revealed no significant difference between the population of Bosnia and Herzegovina and neighbouring populations.

Sex differences in humans have been studied in a variety of fields. Sex determination generally occurs by the presence or absence of a Y chromosome in the 23rd pair of chromosomes in the human genome. Phenotypic sex refers to an individual's sex as determined by their internal and external genitalia and expression of secondary sex characteristics.

Sex differences generally refer to traits that are sexually dimorphic. A subset of such differences is hypothesized to be the product of the evolutionary process of sexual selection.

Male (symbol: ♂) is the sex of an organism that produces the gamete (sex cell) known as sperm, which fuses with the larger female gamete, or ovum, in the process of fertilisation. A male organism cannot reproduce sexually without access to at least one ovum from a female, but some organisms can reproduce both sexually and asexually. Most male mammals, including male humans, have a Y chromosome, which codes for the production of larger amounts of testosterone to develop male reproductive organs.

In humans, the word male can also be used to refer to gender, in the social sense of gender role or gender identity.

The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery.

The XO sex-determination system (sometimes referred to as X0 sex-determination system) is a system that some species of insects, arachnids, and mammals (not including humans) use to determine the sex of offspring. In this system, there is only one sex chromosome, referred to as X. Males only have one X chromosome (XO), while females have two (XX). The letter O (sometimes a zero) signifies the lack of a Y chromosome. Maternal gametes always contain an X chromosome, so the sex of the animals' offspring depends on whether a sex chromosome is present in the male gamete. Its sperm normally contains either one X chromosome or no sex chromosomes at all.

This system determines the sex of offspring among:

An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA.

For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities.

In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by specific mutations in the non-recombining portions of DNA on the male-specific Y chromosome (Y-DNA). Individuals within a haplogroup share similar numbers of short tandem repeats (STRs) and single-nucleotide polymorphisms (SNPs). The Y-chromosome accumulates approximately two mutations per generation, and Y-DNA haplogroups represent significant branches of the Y-chromosome phylogenetic tree, each characterized by hundreds or even thousands of unique mutations.

The Y-chromosomal most recent common ancestor (Y-MRCA), often referred to as Y-chromosomal Adam, is the most recent common ancestor from whom all currently living humans are descended patrilineally. Y-chromosomal Adam is estimated to have lived around 236,000 years ago in Africa. By examining other population bottlenecks, most Eurasian men trace their descent from a man who lived in Africa approximately 69,000 years ago (Haplogroup CT). Although Southeast Asia has been proposed as the origin for all non-African human Y chromosomes, this hypothesis is considered unlikely. Other bottlenecks occurred roughly 50,000 and 5,000 years ago, and the majority of Eurasian men are believed to be descended from four ancestors who lived 50,000 years ago, all of whom were descendants of an African lineage (Haplogroup E-M168).

Haplogroup Q-M25, also known as Q1a1b is a subclade or branch of human Y-DNA haplogroup Q-F1096 (Q1a1), which is, in turn, a subclade of Q-MEH2 (Q1a). In human genetics, each Y-DNA haplogroup constitutes a biological paternal lineages back to a shared common male ancestor.

Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals (placentals and marsupials). SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.

SRY is a member of the SOX (SRY-like box) gene family of DNA-binding proteins. When complexed with the steroidogenic factor 1 (SF-1) protein, SRY acts as a transcription factor that causes upregulation of other transcription factors, most importantly SOX9. Its expression causes the development of primary sex cords, which later develop into seminiferous tubules. These cords form in the central part of the yet-undifferentiated gonad, turning it into a testis. The now-induced Leydig cells of the testis then start secreting testosterone, while the Sertoli cells produce anti-Müllerian hormone. Effects of the SRY gene, which normally take place 6–8 weeks after fetus formation, inhibit the growth of female anatomical structure in males. The gene also contributes towards developing the secondary sexual characteristics of males.

Sex differences in human physiology are distinctions of physiological characteristics associated with either male or female humans. These differences are caused by the effects of the different sex chromosome complement in males and females, and differential exposure to gonadal sex hormones during development. Sexual dimorphism is a term for the phenotypic difference between males and females of the same species.

The process of meiosis and fertilization (with rare exceptions) results in a zygote with either two X chromosomes (an XX female) or one X and one Y chromosome (an XY male) which then develops the typical female or male phenotype. Physiological sex differences include discrete features such as the respective male and female reproductive systems, as well as average differences between males and females including size and strength, bodily proportions, hair distribution, breast differentiation, voice pitch, and brain size and structure.

Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. The complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders. The birth prevalence of KS in the State of Victoria, Australia was estimated to be 223 per 100,000 males. It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s, along with his colleagues at Massachusetts General Hospital.

The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome, yielding a total of 47 or more chromosomes rather than the usual 46. Klinefelter syndrome occurs randomly. The second X chromosome comes from the father and mother nearly equally. An older mother may have a slightly increased risk of a child with KS. The syndrome is diagnosed by the genetic test known as karyotyping.

The Zaporozhian Cossacks or Zaporizhian Cossacks, also known as the Zaporozhian Cossack Army or the Zaporozhian Host (Ukrainian: Військо Запорозьке, romanized: Viisko Zaporozke), were Cossacks who lived beyond (that is, downstream from) the Dnieper Rapids. They were predominantly Ruthenians, but also included other ethnic groups (most notably their legendary Kosh Otaman Ivan Sirko was of Moldavian origin). Scientific studies conducted on the Zaporozhian Cossack genetics show that their Y-chromosomal genetic makeup forms the southern fragment of East Slavic population, with minimal levels to absence of Caucasian and Asian component in their paternal gene pool. Along with Registered Cossacks and Sloboda Cossacks, Zaporozhian Cossacks played an important role in the history of Ukraine and the ethnogenesis of Ukrainians.

The Zaporozhian Sich grew rapidly in the 15th century from serfs fleeing the more controlled parts of the Polish–Lithuanian Commonwealth. The least controlled region, that was located between the Dniester and mid-Volga was first known from the 15th century as the Wild Fields, which was subject to colonization by the Zaporozhian Cossacks. Zaporozhian Host became established as a well-respected political entity with a parliamentary system of government. During the course of the 16th, 17th and well into the 18th century, the Zaporozhian Cossacks were a strong political and military force that challenged the authority of the Polish–Lithuanian Commonwealth, the Tsardom of Russia, and the Crimean Khanate.