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Microcephalin
Microcephalin (MCPH1) is a gene that is expressed during fetal brain development. Certain mutations in ''MCPH1'', when homozygous, cause primary microcephaly—a severely diminished brain. Hence, it has been assumed that variants have a role in brain development. However, in normal individuals no effect on mental ability or behavior has yet been demonstrated in either this or another similarly studied microcephaly gene, '' ASPM''. However, an association has been established between normal variation in brain structure, as measured with MRI (i.e., primarily '' cortical surface area'' and total brain volume) but only in females, and common genetic variants within both the MCPH1 gene and another similarly studied microcephaly gene, '' CDK5RAP2''. Structure Microcephalin proteins contain the following three domains: * N-terminal BRCT domain * Central microcephalin protein domain () * C-terminal BRCT domain Expression in the brain MCPH1 is expressed in the fetal brain, in the d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ASPM (gene)
Abnormal spindle-like microcephaly-associated protein, also known as abnormal spindle protein homolog or Asp homolog, is a protein that in humans is encoded by the ''ASPM'' gene. ASPM is located on chromosome 1, band q31 (1q31). The ''ASPM'' gene contains 28 exons and codes for a 3477 amino‐acid‐long protein. The ASPM protein is conserved across species including human, mouse, ''Drosophila'', and ''C. elegans''. Defective forms of the ASPM gene are associated with autosomal recessive primary microcephaly. "ASPM" is an acronym for "Abnormal Spindle-like, Microcephaly-associated", which reflects its being an ortholog to the ''Drosophila melanogaster'' "abnormal spindle" (''asp'') gene. The expressed protein product of the asp gene is essential for normal mitotic spindle function in embryonic neuroblasts and regulation of neurogenesis. A new allele of ASPM arose sometime in the past 14,000 years (mean estimate 5,800 years), during the Holocene, it seems to have swept through much ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bruce Lahn
Bruce Lahn is a Chinese-born American geneticist. Lahn came to the U.S. from China to continue his education in the late 1980s. He is the William B. Graham professor of Human Genetics at the University of Chicago. He is also the founder of the Center for Stem Cell Biology and Tissue Engineering at Sun Yat-sen University in Guangzhou, China. Lahn currently serves as the chief scientist of VectorBuilder, Inc. Lahn's honors include the Merrill Lynch Forum Global Innovation Award, the TR100 Award from ''Technology Review'', the Burroughs Wellcome Career Award, and a Searle Scholarship. He was also named to the 40-Under-40 list by Crains Chicago Business. Lahn received his B.A. in General Biology from Harvard University and his Ph.D. from the Massachusetts Institute of Technology in the lab of David C. Page. From 2000 to 2012, Lahn was a Howard Hughes Medical Institute sponsored Investigator. His previous research specialized in human genetics and evolutionary genetics, especially ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Archaic Human Admixture With Modern Humans
There 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. Neanderthal-derived DNA has been found in the genomes of most or possibly all contemporary populations, varying noticeably by region. It accounts for 1–4% of modern genomes for people outside Sub-Saharan Africa, although estimates vary, and either none or possibly up to 0.3% — according to recent research — for those in Africa. It is highest in East Asians, intermediate in Europeans, and lower in Southeast Asians. According ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BRCT Domain
BRCA1 C Terminus (BRCT) domain is a family of evolutionarily related proteins. It is named after the C-terminal domain of BRCA1, a DNA-repair protein that serves as a marker of breast cancer susceptibility. The BRCT domain is found predominantly in proteins involved in cell cycle checkpoint functions responsive to DNA damage, for example as found in the breast cancer DNA-repair protein BRCA1. The domain is an approximately 100 amino acid tandem repeat, which appears to act as a phospho-protein binding domain. Examples Human proteins containing this domain include: * BARD1; BRCA1 * CTDP1; TDT or DNTT * ECT2 * LIG4 * MCPH1; MDC1 * NBN * PARP1; PARP4; PAXIP1 PAX-interacting protein 1 is a protein that in humans is encoded by the ''PAXIP1'' gene. Function This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. ...; PES1 * REV1; RFC1; TOPBP1; TP53BP1; XRCC1 References ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebral Cortex
The cerebral cortex, also known as the cerebral mantle, is the outer layer of neural tissue of the cerebrum of the brain in humans and other mammals. The cerebral cortex mostly consists of the six-layered neocortex, with just 10% consisting of allocortex. It is separated into two cortices, by the longitudinal fissure that divides the cerebrum into the left and right cerebral hemispheres. The two hemispheres are joined beneath the cortex by the corpus callosum. The cerebral cortex is the largest site of neural integration in the central nervous system. It plays a key role in attention, perception, awareness, thought, memory, language, and consciousness. The cerebral cortex is part of the brain responsible for cognition. In most mammals, apart from small mammals that have small brains, the cerebral cortex is folded, providing a greater surface area in the confined volume of the cranium. Apart from minimising brain and cranial volume, cortical folding is crucial f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Upstream And Downstream (DNA)
In molecular biology and genetics, upstream and downstream both refer to relative positions of genetic code in DNA or RNA. Each strand of DNA or RNA has a 5' end and a 3' end, so named for the carbon position on the deoxyribose (or ribose) ring. By convention, upstream and downstream relate to the 5' to 3' direction respectively in which RNA transcription takes place. Upstream is toward the 5' end of the RNA molecule and downstream is toward the 3' end. When considering double-stranded DNA, upstream is toward the 5' end of the coding strand for the gene in question and downstream is toward the 3' end. Due to the anti-parallel nature of DNA, this means the 3' end of the template strand is upstream of the gene and the 5' end is downstream. Some genes on the same DNA molecule may be transcribed in opposite directions. This means the upstream and downstream areas of the molecule may change depending on which gene is used as the reference. See also *Upstream and downstream (tra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genome-wide Association Study
In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease. These participants may be people with a disease (cases) and similar people without the disease (controls), or they may be people with different phenotypes for a particular trait, for example blood pressure. This approach is known as phenotype-first, in which the participants are classified first by their clinical manifestation(s), as opposed to genotype-first. Each pe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Richard Lewontin
Richard Charles Lewontin (March 29, 1929 – July 4, 2021) was an American evolutionary biologist, mathematician, geneticist, and social commentator. A leader in developing the mathematical basis of population genetics and evolutionary theory, he pioneered the application of techniques from molecular biology, such as gel electrophoresis, to questions of genetic variation and evolution. In a pair of seminal 1966 papers co-authored with J. L. Hubby in the journal ''Genetics'', Lewontin helped set the stage for the modern field of molecular evolution. In 1979 he and Stephen Jay Gould introduced the term "spandrel" into evolutionary theory. From 1973 to 1998, he held an endowed chair in zoology and biology at Harvard University, and from 2003 until his death in 2021 he was a research professor there. Lewontin opposed genetic determinism. Early life and education Lewontin was born in New York City, to parents descended from late 19th-century Ashkenazi Jewish immigrants. His father ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
John Derbyshire
John Derbyshire (born 3 June 1945) is a British-born American far-right political commentator, writer, journalist and computer programmer. He was once known as a paleoconservative, until he was fired from the '' National Review'' in 2012 for writing an article for an online magazine that was widely viewed as racist. He now holds a staff position at the white supremacist website VDARE. In the article that caused his firing, Derbyshire suggested that white and Asian parents should talk to their children about the threats posed to their safety by black people. He also recommended that parents tell their children not to live in predominantly black communities. He included the line "If planning a trip to a beach or amusement park at some date, find out whether it is likely to be swamped with blacks on that date." He has also written for the ''New English Review''. His columns cover a broad range of political-cultural topics, including immigration, China, history, mathematics, an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neanderthal
Neanderthals (, also ''Homo neanderthalensis'' and erroneously ''Homo sapiens neanderthalensis''), also written as Neandertals, are an extinct species or subspecies of archaic humans who lived in Eurasia until about 40,000 years ago. While the "causes of Neanderthal disappearance about 40,000 years ago remain highly contested," demographic factors such as small population size, inbreeding and genetic drift, are considered probable factors. Other scholars have proposed competitive replacement, assimilation into the modern human genome (bred into extinction), great climatic change, disease, or a combination of these factors. It is unclear when the line of Neanderthals split from that of modern humans; studies have produced various intervals ranging from 315,000 to more than 800,000 years ago. The date of divergence of Neanderthals from their ancestor '' H. heidelbergensis'' is also unclear. The oldest potential Neanderthal bones date to 430,000 years ago, but the classification ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome
A 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. Chromosomes are normally visible under a light microscope only during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). Before this happens, each chromosome is duplicated ( S phase), and both copies are joined by a centromere, resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. The joined copies are now c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
