Mendelian traits in humans
Mendelian traits in humans concerns how, in Mendelian inheritance, a child receiving a dominant allele from either parent will have the dominant form of the phenotypic trait or characteristic. Only those that received the recessive allele from both parents, known as zygosity, will have the recessive phenotype; those that receive a dominant allele from one parent and a recessive allele from the other parent will have the dominant form of the trait. Purely Mendelian traits are a tiny minority of all traits, since most phenotypic traits exhibit incomplete dominance and contributions from many genes; the recessive phenotype may theoretically skip any number of generations, lying dormant in heterozygous "carrier" individuals until they have children with someone who has the recessive allele and both pass it on to their child. Genes that do not follow Mendelian genetics include the human Y chromosome, passed unchanged from father to son; the mitochondrial DNA comes only from the mother and is given to both male and female children.
Epigenetic modifications, linked genes, duplicated genes elsewhere in the genome will lead to a non-mendelian inheritance of traits. These traits include: Albinism Achondroplasia:53 Alkaptonuria:53, 263 Ataxia telangiectasia:53 Brachydactyly:53 Blood type Colour blindness:53 Cystic fibrosis:53 Duchenne muscular dystrophy:53 Ectrodactyly Ehlers–Danlos syndrome:53 Fabry disease Galactosemia:53 Gaucher's disease Haemophilia:53 Hereditary breast–ovarian cancer syndrome Hereditary nonpolyposis colorectal cancer HFE hereditary haemochromatosis Huntington's disease:53 Hypercholesterolemia:53 Krabbe disease Lactase persistence Leber's hereditary optic neuropathy Lesch–Nyhan syndrome:53 Marfan syndrome:53 Niemann–Pick disease Phenylketonuria:53 Porphyria:53 Retinoblastoma Sickle-cell disease:53 Sanfilippo syndrome Tay–Sachs disease:53 Wet or dry earwax – dry is found in Asians and Native Americans Mange, Elaine J.. Basic Human Genetics. Sunderland: Sinauer. ISBN 978-0-87893-497-3. Lay summary. Speicher, Michael R..
Vogel and Motulsky's Human Genetics: Approaches. Heidelberg: Springer Scientific. Doi:10.1007/978-3-540-37654-5. ISBN 978-3-540-37653-8. Lay summary. OMIM Online Mendelian Inheritance in Man
Canthus is either corner of the eye where the upper and lower eyelids meet. More the inner and outer canthi are the medial and lateral ends/angles of the palpebral fissure; the bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. Asians eyes tend to have the inner canthus veiled by the epicanthus. In Caucasians the inner corner tends to be exposed completely; the lateral palpebral commissure is more acute than the medial, the eyelids here lie in close contact with the bulb of the eye. The medial palpebral commissure is prolonged for a short distance toward the nose, the two eyelids are separated by a triangular space, the lacus lacrimalis. Canthoplasty lateral canthus. A canthotomy involves cutting the canthus performed to release excessive orbital pressure; the two canthi of each eye are represented in cephalometric analysis by the endocanthion and exocanthion landmarks. Dystopia canthorum is a lateral displacement of the inner canthi of the eyes, giving an appearance of a widened nasal bridge.
It is associated with Waardenburg syndrome, due to mutation in PAX gene. Epicanthic fold Lateral palpebral raphe Diagram at sheinman.com Diagram at solobambini.com
Dimples of Venus
The dimples of Venus are sagittally symmetrical indentations sometimes visible on the human lower back, just superior to the gluteal cleft. They are directly superficial to the two sacroiliac joints, the sites where the sacrum attaches to the ilium of the pelvis. An imaginary line joining both dimples of Venus passes over the spinous process of the second sacral vertebra; the term "dimples of Venus", while informal, is a accepted name within the medical profession for the superficial topography of the sacroiliac joints. The Latin name is fossae lumbales laterales; these indentations are created by a short ligament stretching between the posterior superior iliac spine and the skin. Named after Venus, the Roman goddess of beauty, they are sometimes believed to be a mark of beauty; the features may be seen on both female and male backs, but seem to be more common and more prominent in women. There are other deep-to-superficial skin ligaments, such as "Cooper's ligaments", which are present in the breast and are found between the pectoralis major fascia and the skin.
Another use of the term "dimples of Venus" in surgical anatomy refers to two symmetrical indentations on the posterior aspect of the sacrum, which contain a venous channel. They are used as a landmark for finding the superior articular facets of the sacrum as a guide to place sacral pedicle screws in spine surgery. In the 2010's, back dimples became a popular location for women to get transdermal body piercings. Apollo's belt Dimples Rhombus of Michaelis Sacral dimple Venus Callipyge
Antonio Rodolfo Quinn Oaxaca, known as Anthony Quinn, was a Mexican-born American actor, painter and film director. He starred in numerous critically acclaimed and commercially successful films, including La Strada, The Guns of Navarone, Zorba the Greek, Guns for San Sebastian, Lawrence of Arabia, The Shoes of the Fisherman, The Message, Lion of the Desert, Last Action Hero and A Walk in the Clouds, he won the Academy Award for Best Supporting Actor twice: for Viva Zapata! in 1952 and Lust for Life in 1956. Quinn was born Antonio Rodolfo Quinn Oaxaca on April 21, 1915, in Chihuahua, during the Mexican Revolution to Manuela "Nellie" and Francisco "Frank" Quinn, a Mexican mother and an Irish immigrant father from County Cork. Frank Quinn rode with Mexican revolutionary Pancho Villa later moved to the East Los Angeles neighborhood of City Terrace and became an assistant cameraman at a movie studio. In Quinn's autobiography, The Original Sin: A Self-portrait by Anthony Quinn, he denied being the son of an "Irish adventurer" and attributed that tale to Hollywood publicists.
When he was six years old, Quinn attended a Catholic church. At age eleven, however, he joined the Pentecostals in the International Church of the Foursquare Gospel. For a time he played in the church's band and was an apprentice preacher with the renowned evangelist. "I have known most of the great actresses of my time, not one of them could touch her", Quinn once said of the spellbinding McPherson, whom he credited with inspiring Zorba's gesture of the outstretched hand. Quinn grew up first in El Paso, in East Los Angeles and in the Echo Park area of Los Angeles, California, he attended Hammel Street Elementary School, Belvedere Junior High School, Polytechnic High School and Belmont High School in Los Angeles, with future baseball player and General Hospital star John Beradino, but left before graduating. Tucson High School in Arizona, many years awarded him an honorary high school diploma; as a young man, Quinn boxed professionally to earn money studied art and architecture under Frank Lloyd Wright, at Wright's Arizona residence and his Wisconsin studio, Taliesin.
The two men became friends. When Quinn mentioned that he was drawn to acting, Wright encouraged him. Quinn didn't know what to do. Wright replied, "Take it, you'll never make that much with me." During a 1999 interview on the show Private Screenings with Robert Osborne, Quinn said the contract was for only $300 per week. After a short time performing on the stage, Quinn launched his film career performing character roles in the 1936 films The Plainsman as a Cheyenne Indian after Custer's defeat with Gary Cooper and The Milky Way, he played "ethnic" villains in Paramount films such as Dangerous to Know and Road to Morocco, played a more sympathetic Crazy Horse in They Died with Their Boots On with Errol Flynn. By 1947, he had appeared in more than fifty films and had played Indians, Mafia dons, Hawaiian chiefs, Filipino freedom-fighters, Chinese guerrillas, Arab sheiks, but was still not a major star, he returned to the theater. In 1947, he became a naturalized citizen of the United States, he came back to Hollywood in the early 1950s.
He was cast in a series of B-adventures such as Mask of the Avenger. His big break came from playing opposite Marlon Brando in Elia Kazan's Viva Zapata!. Quinn's performance as Zapata's brother won Quinn an Oscar while Brando lost the Oscar for Best Actor to Gary Cooper in High Noon. Quinn was the first Mexican-American to win an Academy Award, he appeared in several Italian films starting in 1953, turning in one of his best performances as a dim-witted and volatile strongman in Federico Fellini's La Strada opposite Giulietta Masina. Quinn won his second Oscar for Best Supporting Actor for his portrayal of painter Paul Gauguin in Vincente Minnelli's Lust for Life; the following year, he received an Oscar nomination for Best Actor for his part in George Cukor's Wild Is the Wind. He starred in the film The Savage Innocents as Inuk, an Eskimo who finds himself caught between two clashing cultures; as the decade ended, Quinn allowed his age to show and began his transformation into a major character actor.
His physique filled out, his hair grayed, his once smooth, swarthy face weathered and became more rugged. He played a Greek resistance fighter in The Guns of Navarone, an aging boxer in Requiem for a Heavyweight, the Bedouin shaikh Auda abu Tayi in Lawrence of Arabia, he played the title role in the 1961 film Barabbas, based on a novel by Pär Lagerkvist. The success of Zorba the Greek in 1964 resulted in another Oscar nomination for Best Actor. Other films included The 25th Hour, The Magus, La Bataille de San Sebastian and The Shoes of the Fisherman. In 1969, he starred in The Secret of Santa Vittoria with Anna Magnani, he appeared on Broadway to great acclaim in Becket, as King Henry II to Laurence Olivier's Thomas Becket in 1960. An erroneous story arose in years that during the run Quinn and Olivier switched roles and Quinn played Becket to Olivier's King. In fact, Quinn left the production for a film, never having played Becket, director Peter Glenville suggested a road tour with Olivier as Henry.
Olivier agreed and Arthur Kennedy took on the role of Becket for the tour and brief return to Broadway. In 1971, after the success of a TV movie named The Cit
Cary Grant was an English-born American actor, known as one of classic Hollywood's definitive leading men. He began a career in Hollywood in the early 1930s and became known for his transatlantic accent, debonair demeanor, light-hearted approach to acting, sense of comic timing, he became an American citizen in 1942. Grant was born in Bristol, he became attracted to theater at a young age and began performing with a troupe known as "The Penders" at age six. He attended Bishop Road Primary School and Fairfield Grammar School in Bristol toured the country as a stage performer, he established a name for himself in vaudeville in the 1920s and toured the United States before moving to Hollywood in the early 1930s. He appeared in crime films or dramas such as Blonde Venus and She Done Him Wrong, but gained renown for his appearances in romantic comedy and screwball comedy films such as The Awful Truth, Bringing Up Baby, His Girl Friday, The Philadelphia Story; these films are cited among the greatest comedy films.
He was nominated for the Academy Award for Best Actor for Penny Serenade and None but the Lonely Heart. In the 1940s and 1950s, Grant forged a working relationship with director Alfred Hitchcock, appearing in films such as Suspicion, Notorious, To Catch a Thief, North by Northwest. Hitchcock admired Grant and considered him the only actor that he had loved working with. Towards the end of his film career, Grant was praised by critics as a romantic leading man, he received five nominations for Golden Globe Award for Best Actor, including Indiscreet with Ingrid Bergman, That Touch of Mink with Doris Day, Charade with Audrey Hepburn, he is remembered by critics for his unusually broad appeal as a handsome, suave actor who did not take himself too able to play with his own dignity in comedies without sacrificing it entirely. Grant was married five times, three of them elopements with actresses Virginia Cherrill, Betsy Drake, Dyan Cannon, he retired from film acting in 1966 and pursued numerous business interests, representing cosmetics firm Fabergé and sitting on the board of MGM.
He was presented with an Honorary Oscar by his friend Frank Sinatra at the 42nd Academy Awards in 1970, he was accorded the Kennedy Center Honors in 1981. In 1999, the American Film Institute named him the second greatest male star of Golden Age Hollywood cinema. Grant was born Archibald Alec Leach on January 18, 1904 at 15 Hughenden Road in the northern Bristol suburb of Horfield, he was the second child of Elsie Maria Leach. His father worked as a tailor's presser at a clothes factory, while his mother worked as a seamstress, his older brother John died of tuberculous meningitis. Grant considered himself to be Jewish, he had an unhappy upbringing. Grant's mother taught him song and dance when he was four, she was keen on him having piano lessons, she would take him to the cinema where he enjoyed the performances of Charlie Chaplin, Chester Conklin, Fatty Arbuckle, Ford Sterling, Mack Swain, Broncho Billy Anderson. He was sent to the Bishop Road Primary School, Bristol when he was 4½. Grant's biographer Graham McCann claimed that his mother "did not know how to give affection and did not know how to receive it either."
Biographer Geoffrey Wansell notes that his mother blamed herself bitterly for the death of Grant's brother John, she never recovered from it. Grant acknowledged that his negative experiences with his mother affected his relationships with women in life, she frowned on alcohol and tobacco, would reduce pocket money for minor mishaps. Grant attributed her behavior towards him as her being overprotective, fearing that she would lose him as she did John; when Grant was nine years old, his father placed his mother in Glenside Hospital, a mental institution, told him that she had gone away on a "long holiday". Grant grew up resenting his mother after she left the family. After she was gone and his father moved into the home of his grandmother in Bristol; when Grant was 10, his father remarried and started a new family, Grant did not learn that his mother was still alive until he was 31. Grant made arrangements for his mother to leave the institution in June 1935, shortly after he learned of her whereabouts.
He visited her in October 1938. Grant enjoyed the theater pantomimes at Christmas which he would attend with his father, he befriended a troupe of acrobatic dancers known as "The Penders" or the "Bob Pender Stage Troupe". He began touring with them. Jesse Lasky was a Broadway producer at the time, he saw him performing at the Wintergarten theater in Berlin around 1914. In 1915, Grant won a scholarship to attend Fairfield Grammar School in Bristol, although his father could afford to pay for the uniform, he was quite capable in most academic subjects, but he excelled at sports fives, his good looks and acrobatic talents made him a popular figure among both girls and boys. He developed a reputation for mischief, refused to do his homework. A former classmate referred to him as a "scruffy little boy", while an old teacher remembered "the naughty little boy, always making a noise in the back
John Forsythe was an American stage, film/television actor, narrator, drama teacher and philanthropist whose career spanned six decades. He appeared as a guest on several talk and variety shows and as a panelist on numerous game shows, his 60-year acting career began in films in 1943. He signed up with Warner Bros. at age 25 as a minor contract player, but he starred in films like The Captive City. He co-starred opposite Loretta Young in It Happens Every Thursday, Edmund Gwenn and Shirley MacLaine in The Trouble With Harry, Olivia De Havilland in The Ambassador's Daughter. Forsythe enjoyed a successful television career, starring in three television series, spanning four decades and three genres: as the single playboy father Bentley Gregg in the sitcom Bachelor Father, as the unseen millionaire Charles Townsend in the crime drama Charlie's Angels — a role he would reprise in the 2000 and 2003 film adaptations — and as patriarch Blake Carrington in Dynasty, he hosted the series World of Survival, was the presenter of the 38th Miss Universe Pageant, broadcast on CBS in 1989.
The eldest of three children, Forsythe was born as John, or Jacob, Lincoln Freund on January 29, 1918, in Penns Grove, New Jersey, to Blanche Forsythe and Samuel Jeremiah Freund. Blanche was born in Georgia, to David Hyat Blohm, a Russian Jewish immigrant, Mary S. Materson, who herself was born in Maryland, to Jewish emigrants from Prussia. Forysthe's father was a stockbroker, born in New York, to Polish Jewish immigrants, he was raised in Brooklyn, New York, where his father worked as a Wall Street businessman during the Great Depression of the 1930s. He graduated from Abraham Lincoln High School in Brooklyn at the age of 16, began attending the University of North Carolina at Chapel Hill. In 1936 at the age of 18, he took a job as the public address announcer for Brooklyn Dodgers games at Ebbets Field, confirming a childhood love of baseball, he was a lifelong active Democrat. Despite showing initial reluctance, Forsythe began an acting career at the suggestion of his father, he met actress Parker Worthington McCormick, the couple married in 1939.
As a bit player for Warner Brothers, Forsythe appeared in several small parts. As a result, he was given a small role in Destination Tokyo. Leaving his movie career for service in the United States Army Air Corps in World War II, he appeared in the U. S. Army Air Corps play and film Winged Victory worked with injured soldiers who had developed speech problems. In 1943, Forsythe met Julie Warren a theatre companion, but a successful actress in her own right, landing a role on Broadway in Around the World. Warren became Forsythe's second wife and in the early 1950s the marriage produced two daughters. In 1947, Forsythe joined the initial class of the Actors Studio, where he met Marlon Brando and Julie Harris, among others. During this time he appeared on Broadway in The Teahouse of the August Moon. In 1955, Alfred Hitchcock cast Forsythe in the movie The Trouble with Harry, with Shirley MacLaine in her first movie appearance, for which she won a Golden Globe. In 1969, Forsythe appeared in another Hitchcock film, Topaz.
Throughout the 1950s, Forsythe appeared in the new medium and worked on all the networks as a guest star. For example, during this period, he appeared on the popular anthology Alfred Hitchcock Presents in an episode titled "Premonition" opposite Cloris Leachman, he starred in an episode of the CBS Western anthology series Zane Grey Theatre titled Decision at Wilson's Creek, which premiered May 17, 1957. Outdoor location sequences for the episode were shot on the Iverson Movie Ranch in Chatsworth, Los Angeles, where a number of scenes took place in a group of oak trees on the Upper Iverson that came to be known as the Midway Oaks. One of those oak trees, a distinctive multi-trunked tree with a characteristic lean, became known as the Forsythe Oak, commemorating John Forsythe's appearance at the fabled movie ranch, considered the most filmed outdoor location in movie and television history; the Forsythe Oak remains in place today, located on a private estate on the former Upper Iverson. In 1957, he took a leading role in the situation comedy Bachelor Father for CBS as Bentley Gregg, a playboy lawyer who has to become a father to his niece Kelly, upon the death of her biological parents.
The show was an immediate ratings hit and moved to NBC the following season and to ABC in the fall of 1961. On various episodes Forsythe worked with such up-and-coming actresses as Mary Tyler Moore, Barbara Eden, Donna Douglas, Sally Kellerman, Sue Ane Langdon, a teenage Linda Evans. During the 1961–1962 season, Bachelor Father was cancelled due to declining ratings. During the 1960s, Forsythe returned to acting in movies including Kitten with a Whip, Madame X and In Cold Blood. In 1964 he starred in See How They Run, notable for being the first film made for television, he attempted two new television programs: The John Forsythe Show on NBC with Guy Marks, Elsa Lanchester, Ann B. Davis, Peggy Lipton, Forsythe's two young daughters and Brooke, To Rome with Love on CBS with co-star Walter Brennan. Between 1971 and 1977, Forsythe served as narrator on the syndicated nature series, World of Survival, he was the announcer for Michelob beer commercials during the 1970s and 1980s, notably during the "Weekends were made for Michelob" era.
Convergent evolution is the independent evolution of similar features in species of different lineages. Convergent evolution creates analogous structures that have similar form or function but were not present in the last common ancestor of those groups; the cladistic term for the same phenomenon is homoplasy. The recurrent evolution of flight is a classic example, as flying insects, birds and bats have independently evolved the useful capacity of flight. Functionally similar features that have arisen through convergent evolution are analogous, whereas homologous structures or traits have a common origin but can have dissimilar functions. Bird and pterosaur wings are analogous structures, but their forelimbs are homologous, sharing an ancestral state despite serving different functions; the opposite of convergence is divergent evolution. Convergent evolution is similar to parallel evolution, which occurs when two independent species evolve in the same direction and thus independently acquire similar characteristics.
Many instances of convergent evolution are known in plants, including the repeated development of C4 photosynthesis, seed dispersal by fleshy fruits adapted to be eaten by animals, carnivory. In morphology, analogous traits arise when different species live in similar ways and/or a similar environment, so face the same environmental factors; when occupying similar ecological niches similar problems can lead to similar solutions. The British anatomist Richard Owen was the first to identify the fundamental difference between analogies and homologies. In biochemistry and chemical constraints on mechanisms have caused some active site arrangements such as the catalytic triad to evolve independently in separate enzyme superfamilies. In his 1989 book Wonderful Life, Stephen Jay Gould argued that if one could "rewind the tape of life the same conditions were encountered again, evolution could take a different course". Simon Conway Morris disputes this conclusion, arguing that convergence is a dominant force in evolution, given that the same environmental and physical constraints are at work, life will evolve toward an "optimum" body plan, at some point, evolution is bound to stumble upon intelligence, a trait presently identified with at least primates and cetaceans.
In cladistics, a homoplasy is a trait shared by two or more taxa for any reason other than that they share a common ancestry. Taxa which do share ancestry are part of the same clade. Homoplastic traits caused by convergence are therefore, from the point of view of cladistics, confounding factors which could lead to an incorrect analysis. In some cases, it is difficult to tell whether a trait has been lost and re-evolved convergently, or whether a gene has been switched off and re-enabled later; such a re-emerged trait is called an atavism. From a mathematical standpoint, an unused gene has a decreasing probability of retaining potential functionality over time; the time scale of this process varies in different phylogenies. When two species are similar in a particular character, evolution is defined as parallel if the ancestors were similar, convergent if they were not; some scientists have argued that there is a continuum between parallel and convergent evolution, while others maintain that despite some overlap, there are still important distinctions between the two.
When the ancestral forms are unspecified or unknown, or the range of traits considered is not specified, the distinction between parallel and convergent evolution becomes more subjective. For instance, the striking example of similar placental and marsupial forms is described by Richard Dawkins in The Blind Watchmaker as a case of convergent evolution, because mammals on each continent had a long evolutionary history prior to the extinction of the dinosaurs under which to accumulate relevant differences; the enzymology of proteases provides some of the clearest examples of convergent evolution. These examples reflect the intrinsic chemical constraints on enzymes, leading evolution to converge on equivalent solutions independently and repeatedly. Serine and cysteine proteases use different amino acid functional groups as a nucleophile. In order to activate that nucleophile, they orient an acidic and a basic residue in a catalytic triad; the chemical and physical constraints on enzyme catalysis have caused identical triad arrangements to evolve independently more than 20 times in different enzyme superfamilies.
Threonine proteases use the amino acid threonine as their catalytic nucleophile. Unlike cysteine and serine, threonine is a secondary alcohol; the methyl group of threonine restricts the possible orientations of triad and substrate, as the methyl clashes with either the enzyme backbone or the histidine base. Most threonine proteases use an N-terminal threonine in order to avoid such steric clashes. Several evolutionarily independent enzyme superfamilies with different protein folds use the N-terminal residue as a nucleophile; this commonality of active site but difference of protein fold indicates that the active site evolved convergently in those families. Convergence occurs at the level of DNA and the amino acid sequences produced by translating structural genes into proteins. Studies have found convergence in amino acid sequenc