Y chromosomeThe Y chromosome is one of two sex chromosomes in therian mammals and other organisms. The other sex chromosome is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence or absence of Y that determines the male or female sex of offspring produced in sexual reproduction. In mammals, the Y chromosome contains the gene SRY, which triggers male development. The DNA in the human Y chromosome is composed of about 62 million base pairs, making it similar in size to chromosome 19.
ChromosomeA chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are the histones. These proteins, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation.
X chromosomeThe 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. It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig.
Turner syndromeTurner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a female has a single X chromosome, compared to the two sex chromosomes (XX or XY) in most people. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, those affected do not develop menstrual periods or breasts without hormone treatment and are unable to have children without reproductive technology.
XYY syndromeXYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. There are usually few symptoms. These may include being taller than average and an increased risk of learning disabilities. The person is generally otherwise normal, including typical rates of fertility. The condition is generally not inherited but rather occurs as a result of a random event during sperm development. Diagnosis is by a chromosomal analysis, but most of those affected are not diagnosed within their lifetime.
Homologous chromosomeA couple of homologous chromosomes, or homologs, are a set of one maternal and one paternal chromosome that pair up with each other inside a cell during fertilization. Homologs have the same genes in the same loci where they provide points along each chromosome which enable a pair of chromosomes to align correctly with each other before separating during meiosis. This is the basis for Mendelian inheritance which characterizes inheritance patterns of genetic material from an organism to its offspring parent developmental cell at the given time and area.
Klinefelter syndromeKlinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Usually, symptoms are subtle and subjects do not realize they are affected. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor motor coordination, less body hair, breast growth, and less interest in sex. Often, these symptoms are noticed only at puberty.
HumanHumans, or modern humans (Homo sapiens), are the most common and widespread species of primate. A great ape characterized by their hairlessness, bipedalism, and high intelligence, humans have a large brain and resulting cognitive skills that enable them to thrive in varied environments and develop complex societies and civilizations. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states.
AutosomeAn 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.
Archaic humansA number of varieties of Homo are grouped into the broad category of archaic humans in the period that precedes and is contemporary to the emergence of the earliest early modern humans (Homo sapiens) around 300 ka. Among the earliest remains of H. sapiens are Omo-Kibish I (Omo I) from southern Ethiopia ( 195 or 233 ka), the remains from Jebel Irhoud in Morocco (about 315 ka) and Florisbad in South Africa (259 ka). The term typically includes H. antecessor, H. bodoensis, Denisovans (H. denisova), H.
Noonan syndromeNoonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence is often normal. Complications of NS can include leukemia.
Sex-determining region Y protein'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 (placental mammals 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.
Interbreeding between archaic and modern humansThere is evidence for interbreeding between archaic and modern humans during the Middle Paleolithic and early Upper Paleolithic. The interbreeding happened in several independent events that included Neanderthals and Denisovans, as well as several unidentified hominins. In Eurasia, interbreeding between Neanderthals and Denisovans with modern humans took place several times. The introgression events into modern humans are estimated to have happened about 47,000–65,000 years ago with Neanderthals and about 44,000–54,000 years ago with Denisovans.
ReptileReptiles, in common parlance, are a group of tetrapods with an ectothermic ('cold-blooded') metabolism and amniotic development. Living reptiles comprise four orders: Testudines (turtles), Crocodilia (crocodilians), Squamata (lizards and snakes), and Rhynchocephalia (the tuatara). As of May 2023, about 12,000 living species of reptiles are listed in the Reptile Database. The study of the traditional reptile orders, customarily in combination with the study of modern amphibians, is called herpetology.
Early modern humanEarly modern human (EMH) or anatomically modern human (AMH) are terms used to distinguish Homo sapiens (the only extant Hominina species) that are anatomically consistent with the range of phenotypes seen in contemporary humans, from extinct archaic human species. This distinction is useful especially for times and regions where anatomically modern and archaic humans co-existed, for example, in Paleolithic Europe.
Albinism in humansAlbinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules. This also affects essential granules present in immune cells leading to increased susceptibility to infection.
FemaleAn organism's sex is female (symbol: ♀) if it produces the ovum (egg cell), the type of gamete (sex cell) that fuses with the male gamete (sperm cell) during sexual reproduction. A female has larger gametes than a male. Females and males are results of the anisogamous reproduction system, wherein gametes are of different sizes (unlike isogamy where they are the same size). The exact mechanism of female gamete evolution remains unknown. In species that have males and females, sex-determination may be based on either sex chromosomes, or environmental conditions.
HypogonadismHypogonadism means diminished functional activity of the gonads—the testes or the ovaries—that may result in diminished production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low estrogen (e.g., estradiol) as hypoestrogenism. These are responsible for the observed signs and symptoms in both males and females. Hypogonadism, commonly referred to by the symptom "low testosterone" or "Low T", can also decrease other hormones secreted by the gonads including progesterone, DHEA, anti-Müllerian hormone, activin, and inhibin.
Sex–gender distinctionThough the terms sex and gender have been used interchangeably since at least the fourteenth century, in contemporary academic literature they usually have distinct meanings. Sex generally refers to an organism's biological sex, while gender usually refers to either social roles typically associated with the sex of a person (gender role) or personal identification of one's own gender based on an internal awareness (gender identity).
GonadA gonad, sex gland, or reproductive gland is a mixed gland that produces the gametes and sex hormones of an organism. Female reproductive cells are egg cells, and male reproductive cells are sperm. The male gonad, the testicle, produces sperm in the form of spermatozoa. The female gonad, the ovary, produces egg cells. Both of these gametes are haploid cells. Some hermaphroditic animals (also some humans) have a type of gonad called an ovotestis.
