Chromosomes
Chromosome Mapping
Chromosome Banding
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
X Chromosome
Chromosome Aberrations
Sex Chromosomes
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Chromosomes, Human, Pair 1
Chromosomes, Human
Chromosomes, Bacterial
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 9
Chromosomes, Human, Pair 21
Chromosomes, Plant
Chromosomes, Fungal
Chromosomes, Human, 6-12 and X
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 13
Chromosomes, Mammalian
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 8
Chromosomes, Human, Y
Chromosome Disorders
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 5
Chromosomes, Human, X
Chromosome Painting
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
Chromosomes, Human, 1-3
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 20
In Situ Hybridization, Fluorescence
Chromosomes, Human, 16-18
Chromosomes, Artificial, Yeast
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
Genetic Linkage
Chromosomes, Human, 13-15
Chromosome Breakage
Chromosomes, Human, 21-22 and Y
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Base Sequence
Genetic Markers
Chromosome Inversion
Chromosome Positioning
Chromosomes, Human, 4-5
X Chromosome Inactivation
Centromere
Meiosis
Translocation, Genetic
Hybrid Cells
Chromosomes, Human, 19-20
Aneuploidy
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Metaphase
Mitosis
Recombination, Genetic
Mutation
Microsatellite Repeats
Lod Score
Pedigree
Crosses, Genetic
Cloning, Molecular
Phenotype
DNA
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Alleles
Amino Acid Sequence
Nucleic Acid Hybridization
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Models, Genetic
Sequence Analysis, DNA
Nondisjunction, Genetic
Kinetochores
Chromosomes, Artificial, Human
Telomere
Blotting, Southern
Genotype
Genes
Chromosome Walking
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Chromosomal Proteins, Non-Histone
Haplotypes
Repetitive Sequences, Nucleic Acid
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
Spindle Apparatus
Chromosomal Instability
Evolution, Molecular
Chromosome Fragility
DNA Probes
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
DNA, Satellite
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Drosophila melanogaster
Diploidy
Plasmids
Heterozygote
Chromatids
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Multigene Family
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
DNA-Binding Proteins
Mosaicism
Polyploidy
Gene Deletion
Polymorphism, Genetic
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Species Specificity
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Sequence Homology, Nucleic Acid
Polytene Chromosomes
Escherichia coli
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Nuclear Proteins
Gene Dosage
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Prophase
Interphase
Cell Cycle Proteins
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
Saccharomyces cerevisiae
Loss of Heterozygosity
Karyotype
Cosmids
Cytogenetic Analysis
Chromatin
Cytogenetics
Transcription, Genetic
Genome, Human
Gene Rearrangement
Polymorphism, Restriction Fragment Length
DNA Transposable Elements
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
DNA Primers
Polymorphism, Single Nucleotide
Chromosome Fragile Sites
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
Genetic Predisposition to Disease
Sequence Tagged Sites
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
Sequence Homology, Amino Acid
Spermatocytes
Monosomy
Sex Chromosome Disorders
Genes, Dominant
Genome
Sequence Alignment
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Cell Nucleus
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Azure Stains
Contig Mapping
DNA Restriction Enzymes
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
Philadelphia Chromosome
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
Chromosome Breakpoints
Gene Duplication
Exons
Chromosomes, Archaeal
Haploidy
Genetic Loci
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Hybridization, Genetic
Drosophila
Base Pairing
Gene Amplification
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Genomic Imprinting
Sex Chromatin
Genes, Lethal
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
DNA, Complementary
Histones
Intellectual Disability
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Microtubules
Transcription Factors
Pachytene Stage
Sister Chromatid Exchange
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
Chromosomes, Artificial
RNA, Messenger
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Gene Library
Nucleic Acid Conformation
Introns
Quantitative Trait, Heritable
Triticum
Biological Evolution
Euchromatin
Genomic Library
Novel regions of allelic deletion on chromosome 18p in tumors of the lung, brain and breast. (1/992)
Lung cancer is now the number one cause of cancer death for both men and women. An age-adjusted analysis over the past 25 years shows that in women specifically, lung cancer incidence is on the rise. It is estimated that 10-20 genetic events including the alteration of oncogenes and tumor suppressor genes will have occurred by the time a lung tumor becomes clinically evident. In an effort to identify regions containing novel cancer genes, chromosome 18p11, a band not previously implicated in disease, was examined for loss of heterozygosity (LOH). In this study, 50 matched normal and NSCLC tumor samples were examined using six 18p11 and one 18q12.3 PCR-based polymorphic markers. In addition, LOH was examined in 29 glioblastoma pairs and 14 paired breast carcinomas. This analysis has revealed potentially two regions of LOH in 18p11 in up to 38% of the tumor samples examined. The regions of LOH identified included a 2 cm area between markers D18S59 and D18S476, and a more proximal, 25 cm region of intermediate frequency between D18S452 and D18S453. These results provide evidence for the presence of one or more potential tumor suppressor genes on the short arm of chromosome 18 which may be involved in NSCLC, brain tumors and possibly breast carcinomas as well. (+info)Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18. (2/992)
A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This unique association of defects could represent a chance association. Alternatively, the clinical features could be the result of the chromosomal aberration. If so, one could speculate that a gene or genes on chromosome 18 might act as a suppressor or activator of the autoimmune process by itself or in concert with other IDDM loci. (+info)Loss of heterozygosity at 18q21 is indicative of recurrence and therefore poor prognosis in a subset of colorectal cancers. (3/992)
Adjuvant therapies are increasingly used in colorectal cancers for the prevention of recurrence. These therapies have side-effects and should, thus, be used only if really beneficial. However, the development of recurrence cannot be predicted reliably at the moment of diagnosis, and targeting of adjuvant therapies is thus based only on the primary stage of the cancer. Loss of heterozygosity (LOH) in the long arm of chromosome 18 is suggested to be related to poor survival and possibly to the development of metastases. We studied the value of LOH at 18q21 as a marker of colorectal cancer prognosis, association with clinicopathological variables, tumour recurrence and survival of the patients. Of the 255 patients studied, 195 were informative as regards LOH status when analysed in primary colorectal cancer specimens using the polymerase chain reaction (PCR) and fragment analysis. LOH at 18q21 was significantly associated with the development of recurrence (P = 0.01) and indicated poor survival in patients of Dukes' classes B and C, in which most recurrences (82%) occurred. An increased rate of tumour recurrence is the reason for poor survival among patients with LOH at 18q21 in primary cancer. These patients are a possible target group for recurrence-preventing adjuvant therapies. (+info)An integrated map of chromosome 18 CAG trinucleotide repeat loci. (4/992)
Expansions of trinucleotide CAG repeats have been demonstrated in at least eight neurodegenerative disorders, and suggested to occur in several others, including bipolar disorder and schizophrenia. Chromosome 18 loci have been implicated in bipolar disorder pedigrees by linkage analysis. To address this putative link between chromosome 18 CAG trinucleotide repeats and neuropsychiatric illness, we have screened a chromosome 18 cosmid library (LL18NCO2" AD") and identified 14 novel candidate loci. Characterisation of these loci involved repeat flank sequencing, estimation of polymorphism frequency and mapping using FISH as well as radiation hybrid panels. These mapped trinucleotide loci will be useful in the investigation of chromosome 18 in neurodegenerative or psychiatric conditions, and will serve to integrate physical and radiation hybrid maps of chromosome 18. (+info)Detection of t(14;18) carrying cells in bone marrow and peripheral blood from patients affected by non-lymphoid diseases. (5/992)
AIMS/BACKGROUND: To assess the presence of bcl-2/JH rearrangements in bone marrow and peripheral blood lymphocytes from patients affected by diseases other than malignant lymphomas. The t(14;18) (q32;q21) translocation, which juxtaposes the bcl-2 oncogene on chromosome 18 and the JH segment of the immunoglobulin heavy chain (IgH) genes on chromosome 14, is found frequently in follicular lymphomas. METHODS: A sensitive semi-nested polymerase chain reaction (PCR) was used to detect t(14;18) translocation in bone marrow aspirates and peripheral blood lymphocytes from 48 patients. In 137 additional individuals peripheral blood lymphocytes only were tested. RESULTS: Cells carrying bcl-2/JH rearrangements were detected in about a quarter of the bone marrow samples and half of the peripheral blood lymphocyte samples. In seven patients, t(14;18) positive cells were found in both the bone marrow and peripheral blood lymphocyte samples. The size of the PCR products and bcl-2/JH DNA sequence analysis showed that the same t(14;18) carrying clone was present in the bone marrow and the corresponding peripheral blood lymphocyte samples in three of these seven patients. Some patients had more than one bcl-2/JH rearrangement. There was no significant correlation between age and the translocation incidence. Cells carrying the t(14;18) translocation were present in peripheral blood lymphocyte samples with a similar incidence--between 47% and 52% in all age groups from 20 to 79 years. Patients older than 80 years had a lower (37%) but not significantly different incidence. CONCLUSIONS: These findings suggest that patients affected by non-lymphoid diseases may have several t(14;18) carrying cells and some of them undergo a clonal expansion. Whether individuals with t(14;18) positive cells are at a higher risk of lymphoid malignancies remains unanswered and further epidemiological studies are required. (+info)Asynchronous replication of alleles in genomes carrying an extra autosome. (6/992)
Transcriptional activity of genes appears to be highly related to their replication timing; alleles showing the common biallelic mode of expression replicate highly synchronously, whereas those with a monoallelic mode of expression replicate asynchronously. Here we used FISH to determine the level of synchronisation in replication timing of alleles in amniotic fluid cells derived from normal foetuses and from those with either of the trisomies for autosomes 21, 18 or 13, or for sex chromosomes (47,XXX and 47,XXY). Two pairs of alleles, not associated with the extra chromosome, were studied in subjects with each trisomy and three in normal subjects. In cells derived from normal foetuses and from foetuses with sex chromosome trisomies, each pair of alleles replicated synchronously; yet these very same alleles replicated asynchronously in cells derived from foetuses with trisomy for any of the three autosomes studied. The results suggest that the gross phenotypic abnormalities associated with an extra autosome are brought about not only by over-expression of genes present in three doses, but also by modifications in the expression of genes present in the normal two doses. (+info)Correlation of bcl-2 rearrangement with clinical characteristics and outcome in indolent follicular lymphoma. (7/992)
The t(14;18) translocation, which involves the bcl-2 oncogene, occurs in follicular lymphomas (FL) at two common sites: the major breakpoint region (MBR) and the minor cluster region (mcr). The biological and clinical significance of these breakpoints is unknown. The bcl-2 breakpoint site was determined in 247 previously untreated patients (49% men; median age 52 years) with indolent FL (155 grade I, 83 grade II, and 8 grade III) to correlate it with pretreatment characteristics, response, and outcome. The bcl-2 breakpoint site was determined by a polymerase chain reaction method of peripheral blood (all cases), bone marrows (149 cases), and fresh lymph node biopsy specimens (68 cases). The breakpoint site occurred at MBR in 175 cases (71%) and at mcr in 27 (11%). In 45 cases (18%), no breakpoint was detected (germline). No significant relationship was found between the rearrangements and the expression of BLC-2 and BAX proteins. Patients' germline for MBR and mcr tended to present more frequently with stage IV disease and higher beta2-microglobulin (beta2M) levels, whereas mcr-rearranged patients presented more frequently with early stage and normal beta2M. The complete response rate of germline patients was significantly lower than that of MBR and mcr patients. An estimated 3-year failure-free survival (FFS) for mcr, MBR, and germline cases was 95%, 76%, and 57%, respectively (P <.001). The bcl-2 breakpoint site was independent of serum beta2M and lactate dehydrogenase in its correlation with FFS. In conclusion, the bcl-2 rearrangement site is an important prognostic factor in indolent FL, useful to identify patients who may require different treatment. (+info)Lymphatic vessel hypoplasia in fetuses with Turner syndrome. (8/992)
Turner syndrome is associated with subcutaneous accumulation of fluid in the neck region that can be visualized sonographically from 10-14 weeks of gestation as massively increased nuchal translucency thickness. Possible mechanisms for this increased translucency include dilatation of the jugular lymphatic sacs because of developmental delay in the connection with the venous system, or a primary abnormal dilatation or proliferation of the lymphatic channels interfering with a normal flow between the lymphatic and venous systems. The aim of this study was to investigate the distribution of lymphatic vessels in nuchal skin tissue from fetuses with Turner syndrome compared with fetuses carrying trisomies 21, 18 and 13 and chromosomally normal controls. The distribution of vessels was examined by immunohistochemistry using a monoclonal antibody, PTN63, against 5' nucleotidase and an anti-laminin antibody. In normal control fetuses (n = 6) and those with trisomies 21 (n = 3), 18 (n = 2) and 13 (n = 2), PTN63-positive and laminin-positive vessels were evenly distributed throughout the dermis and subcutis. In Turner syndrome (n = 3), there was a chain of large vessels that stained with both PTN63 and laminin at the border between dermis and subcutis, but there was scarcity of vessels in the upper dermis and the subcutis. Using PTN63 alone, there were no positive vessels in the upper dermis. We conclude that in Turner syndrome lymphatic vessels in the upper dermis are hypoplastic. (+info)
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Human Y-chromosome DNA haplogroup
"one mutation in every 30 million base pairs" Karmin; et al. (2015). "A recent bottleneck of Y chromosome diversity coincides ... In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of ... 2016). "The Divergence of Neandertal and Modern Human Y Chromosomes". The American Journal of Human Genetics. 98 (4): 728-34. ... Y-chromosome DNA (Y-DNA) haplogroups are the major branches on the human paternal family tree. Each haplogroup has many ...
Chromosome 18
Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 18". Genet Test. 1 (1): 69-71. ... Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 18: entries, gene ... The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 18. Because researchers use different approaches to ...
Human genetic variation
Chromosome abnormalities are detected in 1 of 160 live human births. Apart from sex chromosome disorders, most cases of ... As of 2004, the human nucleotide diversity was estimated to be 0.1% to 0.4% of base pairs. In 2015, the 1000 Genomes Project, ... According to a 2000 study of Y-chromosome sequence variation, human Y-chromosomes trace ancestry to Africa, and the descendants ... Long and Kittles find that rather than 85% of human genetic diversity existing in all human populations, about 100% of human ...
Bacterial artificial chromosome
"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector ... Cosmid End-sequence profiling Fosmid Human artificial chromosome Secondary chromosome Yeast artificial chromosome O'Connor M, ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ...
Chimpanzee genome project
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very alike. The primary difference is that humans have one fewer pair of chromosomes than ... Wikiversity has learning resources about Chimpanzee Genome Project Human evolutionary genetics Human chromosome 2 Human Genome ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...
Aneuploidy
Most cells in the human body have 23 pairs of chromosomes, or a total of 46 chromosomes. (The sperm and egg, or gametes, each ... The 23rd pair of chromosomes are the sex chromosomes. Normal females have two X chromosomes, while normal males have one X ... But sometimes, the whole pair of chromosomes will end up in one gamete, and the other gamete will not get that chromosome at ... Chromosome abnormalities are detected in 1 of 160 live human births. Autosomal aneuploidy is more dangerous than sex chromosome ...
Duffy antigen system
Genes on human chromosome 1, All articles with unsourced statements, Articles with unsourced statements from January 2021, ... The mouse gene has two exons (100 and 1064 nucleotides in length), separated by a 461 base pair intron. In the mouse DARC is ... is located on the long arm of chromosome 1 (1.q22-1.q23) and was cloned in 1993. The gene was first localised to chromosome 1 ... DARC+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) Duffy at BGMUT Blood Group Antigen ...
ROCK1
The human ROCK1 gene is located on human chromosome 18 with specific location of 18q11.1. The location of the base pair starts ... Genes on human chromosome 18, Webarchive template wayback links, EC 2.7.11). ... In humans, the main function of ROCK1 is actomyosin contractility. As mentioned before, this contributes to many proximal ... "Q13464 (ROCK1_HUMAN)". Kroll, Jens; Epting, Daniel; Kern, Katrin; Dietz, Christian T.; Feng, Yuxi; Hammes, Hans-Peter; Wieland ...
CFAP47
... is a human gene encoded on the X chromosome. in humans. CXorf59 is located on chromosome X at locus Xp21.1 of the human genome ... In the 324 to 403 base pair region, there is a Calponin homology domain. Calponin homology domains are found in cytoskeletal ... Articles with short description, Short description matches Wikidata, Genes on human chromosome X, Human proteins). ... "Chromosome X open reading frame 59". NCBI. "CFAP47 Gene". genecards.org/. Korenbaum, E.; Rivero, F. (2002). "Calponin homology ...
C18orf63
It is composed of 5065 base pairs spanning from 74,315,875 to 74,359,187 bp on chromosome 18. The gene has a total of 14 exons ... CS1 errors: generic name, Articles with short description, Short description matches Wikidata, Genes on human chromosome 18, ... "Human BLAT Search". genome.ucsc.edu. Retrieved 2018-04-27. Li X, Wang W, Wang J, Malovannaya A, Xi Y, Li W, Guerra R, Hawke DH ... Chromosome 18 open reading frame 63 is a protein which in humans is encoded by the C18orf63 gene. This protein is not yet well ...
MiR-122
In humans, miR-122 is encoded at a single genomic locus in chromosome 18. The primary miR-122 transcript (pri-miR-122) is a ... The miR-122 hairpin precursor consensus shown here is predicted based on base pairing and cross-species conservation. The ... Lin CJ, Gong HY, Tseng HC, Wang WL, Wu JL (October 2008). "miR-122 targets an anti-apoptotic gene, Bcl-w, in human ... Wilson JA, Sagan SM (August 2014). "Hepatitis C virus and human miR-122: insights from the bench to the clinic". Current ...
Haplogroup S1a (Y-DNA)
Cox MP, Mirazón Lahr M (2006). "Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian ... Haplogroup S1a is a human Y-DNA haplogroup, defined by SNPs Z41335, Z41336, Z41337, Z41338, Z41339, Z41340, and Z41341. S1a is ... Wikipedia articles in need of updating from February 2021, All Wikipedia articles in need of updating, Human Y-DNA haplogroups) ... European Journal of Human Genetics. 23 (3): 369-373. doi:10.1038/ejhg.2014.106. PMC 4326703. PMID 24896152. Kayser M, Choi Y, ...
C2orf81
"C2orf81 chromosome 2 open reading frame 81 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-05-06. ... The mRNA sequence contains and 2086 base pairs and 4 isoforms. C2orf81 has a molecular weight of 66.6 kDa and its isoelectric ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 2). ... In human c2orf81, phosphorylation is expected to be undergone only in serines, but not in any threonines or tyrosines. O-linked ...
Haplogroup S-M230
Genetic genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup Molecular phylogenetics Paragroup Subclade Y- ... "Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian- and Papuan-speaking ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ... Haplogroup S-M230, also known as S1a1b (and previously as S* or K2b1a4), is a Y-chromosome DNA haplogroup. It is by far the ...
Y-DNA haplogroups in populations of Oceania
Y-chromosome haplotypes and implications for human history in the Pacific". Human Mutation. 17 (4): 271-80. doi:10.1002/humu.23 ... "Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian- and Papuan-speaking ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ... and East Indonesia by human Y-chromosome DNA haplogroups based on relevant studies. Oceania Languages of Oceania Demographics ...
Marta Mirazón Lahr
"Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian- and Papuan-speaking ... She and Robert Foley were the first to propose a 'southern route' for humans out of Africa, and for human diversity to be the ... Lahr's research is in human evolution, and ranges across human and hominin morphology, prehistory and genetics. Her early work ... Lahr, M. M. & Foley, R. (1998). "Towards a theory of modern human origins: Geography, demography, and diversity in recent human ...
Haplogroup M-P256
Genetic genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup Molecular phylogeny Paragroup Subclade Y-chromosome ... Cox, Murray P.; Mirazón Lahr, Marta (2006). "Y-chromosome diversity is inversely associated with language affiliation in paired ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ... Haplogroup M, also known as M-P256 and Haplogroup K2b1b (previously K2b1d) is a Y-chromosome DNA haplogroup. M-P256 is a ...
Haplogroup O-M175
... genetic genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup molecular phylogeny Paragroup Subclade Y-chromosome ... Cox MP, Mirazón Lahr M (January 2006). "Y-chromosome diversity is inversely associated with language affiliation in paired ... Haplogroup O, also known as O-M175, is a human Y-chromosome DNA haplogroup. It is primarily found among populations in ... "Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age". The American ...
NDUFA6
Genes on human chromosome 22, Wikipedia articles incorporating text from the United States National Library of Medicine, Human ... The NDUFA6 gene is located on the q arm of chromosome 22 in position 13.2 and spans 5,359 base pairs. The gene produces an 18 ... Related pseudogenes have also been identified on four other chromosomes. The human NDUFA6 gene codes for a subunit of Complex I ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. ...
KIAA1841
Genes on human chromosome 2). ... The coding region is made up of 4292 base pairs and the protein ... KIAA1841 is expressed at low levels in a wide range of tissues throughout the human body. In humans, the KIAA1841 gene produces ... "Genecards". The Gene Human Database. "Aceview". NCBI. "Genecards". The Gene Human Database. "BLAST". NCBI. Hedges, SB. " ... Orthologs of the human protein KIAA1841 are listed above in descending order or date of divergence and then ascending order of ...
SDHD
The SDHD gene is located on chromosome 11 at locus 11q23 and it spans 8,978 base pairs. There are pseudogenes for this gene on ... Genes on human chromosome 11, Wikipedia articles incorporating text from the United States National Library of Medicine, Tumor ... "A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter". Human ... GeneCards Human Gene Database. Retrieved 30 July 2018. Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, ...
Mothers against decapentaplegic homolog 4
In humans, the SMAD4 gene contains 54 829 base pairs and is located from pair n° 51,030,212 to pair 51,085,041 in the region ... Genes on human chromosome 18, Developmental genes and proteins, MH1 domain, MH2 domain, Transcription factors, Human proteins) ... Somatic mutations found in human cancers of the MH1 domain of SMAD 4 have been shown to inhibit the DNA-binding function of ... Zawel L, Dai JL, Buckhaults P, Zhou S, Kinzler KW, Vogelstein B, Kern SE (March 1998). "Human Smad3 and Smad4 are sequence- ...
Zinc transporter ZIP9
... in the SLC39A9 gene can occur due to genetic deletion of the q24.1-24.3 band of base pairs within the human chromosome 14. This ... CS1 errors: requires URL, Articles with short description, Short description matches Wikidata, Genes on human chromosome 14, G ... ZIP9 influxes zinc ions into the cytosol and its gene is expressed almost in every tissue of human body. The sub-cellular ... Role of human ZIP9 in testosterone-induced prostate and breast cancer cell apoptosis". Endocrinology. 155 (11): 4250-65. doi: ...
STAG3 (gene)
v t e (Genes on human chromosome 7, All stub articles, Human chromosome 7 gene stubs). ... a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the ... "Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers". Proceedings of the National ... Stromal antigen 3 is a protein that in humans is encoded by the STAG3 gene. STAG3 protein is a component of a cohesin complex ...
Human accelerated regions
HAR1 is a 106-base pair stretch found on the long arm of chromosome 20 overlapping with part of the RNA genes HAR1F and HAR1R. ... Human accelerated regions (HARs), first described in August 2006, are a set of 49 segments of the human genome that are ... They are named according to their degree of difference between humans and chimpanzees (HAR1 showing the largest degree of human ... Scientists Identify Gene Difference Between Humans and Chimps, Scientific American, 17 August 2006 Researchers Identify Human ...
Biomphalaria glabrata
The chromosomes in this snail are small, and the haploid number of chromosomes is 18. A complete genome sequence from the ... 1997). The genome length is estimated as about 929,10 Mb (millions of base pairs; 0.95 ± 0.01 pg), which is a small genome size ... Sequencing of the whole genome was approved as a priority by National Human Genome Research Institute in August 2004, Its ... S2CID 11158571.. Crompton, D. W. (1999). "How much human helminthiasis is there in the world?" (PDF). The Journal of ...
Ring chromosome 15
Humans have 23 pairs of chromosomes, 22 pairs of autosomal chromosomes and 1 pair of sex chromosomes that differentiate between ... The human body stores its genetic information in chromosomes. The number of chromosomes and the gene locus on the chromosome is ... Any of the 23 pairs of chromosomes can be ringed, and a recent study conducted by the 'Human Ring Chromosome Registry' in China ... Ring chromosome 15 (sometimes denoted as r15) is a condition that arises when chromosome 15 fuses to form a ring chromosome. ...
Platynereis dumerilii
14 chromosomes. It contains approximately 1 Gbp (giga base pairs) or 109 base pairs. This genome size is close to the average ... The ciliary photoreceptor cells resemble molecularly and morphologically the rods and cones of the human eye. Additional, they ... A pair of these eyes mediate phototaxis in the early Platynereis dumerilii trochophore larva. In the later nectochaete larva, ... Its early trochophore larva has a pair of the simplest eyes in the animal kingdom, each eye consists only of a photoreceptor ...
Humanzee
Humans have one pair fewer chromosomes than other apes, with ape chromosomes 2 and 4 fused in the human genome into a large ... In a direct parallel to the chimp-human case, the Przewalski's horse (Equus ferus przewalskii) with 33 chromosome pairs, and ... These include natural selection on the X chromosome in the common ancestor of humans and chimpanzees, changes in the ratio of ... The similarity of the X chromosome in humans and chimpanzees might suggest hybridization taking place as late as four million ...
PAX4
Paired box gene 4, also known as PAX4, is a protein which in humans is encoded by the PAX4 gene. This gene is a member of the ... Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N (1994). "Assignment of the human PAX4 gene to chromosome band ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 7, Wikipedia ...
Uridine monophosphate synthase
In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13). This bifunctional enzyme has ... In Salmonella typhimurium, a new pair of antiparallel β-sheets is created and five new interatomic contacts are formed in the ... Portal: Biology (Genes on human chromosome 3, EC 4.1.1, EC 2.4.2). ... "Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization". Genomics ...
TENM3
Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Levine A, Bashan-Ahrend A, Budai-Hadrian O, Gartenberg D, Menasherow S, Wides R (May 1994). "odd Oz: A novel Drosophila pair ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ...
Genome size
number of base pairs = mass in pg × 9.78 × 10 8 {\displaystyle {\text{number of base pairs}}={\text{mass in pg}}\times 9.78\ ... These species have become a considerable threat to human health, as they are often capable of evading human immune systems and ... I. DNA-content and chromosome sets in various species of Cyprinidae". Humangenetik. 7 (3): 240-244. doi:10.1007/BF00273173. ... or as the total number of nucleotide base pairs, usually in megabases (millions of base pairs, abbreviated Mb or Mbp). One ...
Iris songarica
It has 2 pairs of petals, 3 large sepals (outer petals), known as the 'falls' and 3 inner, smaller petals (or tepals, known as ... It has a chromosome count: 2n=20. It was also counted as 2n=22, 44 by (Zahareva and Makeushenko 1968) and (Fedorov 1969). It is ... Some of these compounds had some antioxidant activity in certain cells and some effected yeast cells expressing human estrogen ... As most irises are diploid, having two sets of chromosomes. This can be used to identify hybrids and classification of ...
Promoter (genetics)
"Gene promoters show chromosome-specificity and reveal chromosome territories in humans". BMC Genomics. 14 (278): 278. doi: ... These pairs of promoters can be positioned in divergent, tandem, and convergent directions. They can also be regulated by ... Furthermore, in humans, promoters show certain structural features characteristic for each chromosome. In bacteria, the ... "Prevalence of the initiator over the TATA box in human and yeast genes and identification of DNA motifs enriched in human TATA- ...
Mitochondrial DNA
This sequencing revealed that the human mtDNA includes 16,569 base pairs and encodes 13 proteins. Since animal mtDNA evolves ... Medusozoa and calcarea clades however have species with linear mitochondrial chromosomes. In terms of base pairs, the anemone ... HVR1, for example, consists of about 440 base pairs. These 440 base pairs are compared to the same regions of other individuals ... Human mitochondrial DNA was the first significant part of the human genome to be sequenced. ...
ZTTK syndrome
"The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Annals of Human Genetics. 58 (1): 25-34. ... Many individuals with ZTTK syndrome have identified heterozygosity for a de novo 4-base pair deletion, de novo mutation in exon ... and CRF2-4 genes cluster on human Chromosome 21 and mouse Chromosome 16". Mammalian Genome. 4 (6): 338-342. doi:10.1007/ ... Human embryonic stem cells (hESCs) are able to undergo lineage-specific differentiation into specific types of cells, known as ...
Cell cycle
During the process of mitosis the pairs of chromosomes condense and attach to microtubules that pull the sister chromatids to ... Many human cancers possess the hyper-activated Cdk 4/6 activities. Given the observations of cyclin D-Cdk 4/6 functions, ... Cell Cycle, Chromosomes and Cancer. Vol. 15. Miami Beach, FL: University of Miami School of Medicine. Alter O, Golub GH ( ... In this checkpoint, the cell checks to ensure that the spindle has formed and that all of the chromosomes are aligned at the ...
Timeline of human evolution
For this sample, a better estimate would be that 95% of the base pairs are exactly shared between chimpanzee and human DNA." ... April 2015). "A recent bottleneck of Y chromosome diversity coincides with a global change in culture". Genome Research. 25 (4 ... Evolutionary biology portal Evolution of human intelligence Graphical timeline of the universe Human evolution Recent human ... The timeline of human evolution outlines the major events in the evolutionary lineage of the modern human species, Homo sapiens ...
Short interspersed nuclear element
The paper examined the global distribution of SINEs in mouse and human chromosomes and determined that this distribution was ... SINEs have 50-500 base pair internal regions which contain a tRNA-derived segment with A and B boxes that serve as an internal ... often leading to disease phenotypes in humans and other animals. Insertion of Alu elements in the human genome is associated ... There are >50 human diseases associated with SINEs. When inserted near or within the exon, SINEs can cause improper splicing, ...
C17orf78
There are no known paralogs of this gene in humans. "C17orf78 chromosome 17 open reading frame 78 [Homo sapiens (human)] - Gene ... Isoform 1 is encoded by a mRNA sequence that is 1920 base pairs in length. Isoform 2 derives from a mRNA sequence of 1678 base ... The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The ... C17orf78 (Chromosome 17 Open Reading Frame 78) is found on the long arm cytogenetic band 17q12. The genomic sequence spans from ...
Inbreeding
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences ... Thus, the likelihood of deleterious recessive alleles to pair is significantly higher in a small inbreeding population than in ... ISBN 978-3-540-37654-5. Ober C, Hyslop T, Hauck WW (January 1999). "Inbreeding effects on fertility in humans: evidence for ...
Isocitrate dehydrogenase
Genes on human chromosome 2, Protein pages needing a picture, Genes on human chromosome 15, Genes on human chromosome 20, Genes ... The lone pair of electrons moves down kicking off the lone pairs that were making the double bond. This lone pair of electrons ... Mtb ICDH-1 is most structurally similar to the R132H mutant human ICDH found in glioblastomas. Similar to human R132H ICDH, Mtb ... In humans, IDH exists in three isoforms: IDH3 catalyzes the third step of the citric acid cycle while converting NAD+ to NADH ...
Wasp
The two pairs of membranous wings are held together by small hooks and the forewings are larger than the hind ones; in some ... Males, called drones, have a haploid (n) number of chromosomes and develop from an unfertilized egg. Wasps store sperm inside ... the existing workers search for sugary foods and are more likely to come into contact with humans. Wasp nests made in or near ... Females are diploid, meaning that they have 2n chromosomes and develop from fertilized eggs. ...
HLA A1-B8-DR3-DQ2
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... CS1 French-language sources (fr), CS1 German-language sources (de), Human MHC haplogroups, Human MHC mediated diseases, Human ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ...
Coffin-Lowry syndrome
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... In 2002, Helen Fryssira and RJ Simensen identified a 3 base pair deletion in the gene encoding RSK2, which was the first report ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 Rogers RC, Abidi FE. ... A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex ...
Collagen, type IV, alpha 2
v t e (Genes on human chromosome 13, Collagens, All stub articles, Human chromosome 13 gene stubs). ... this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common ... Collagen alpha-2(IV) chain is a protein that in humans is encoded by the COL4A2 gene. This gene encodes one of the six subunits ... Pöschl E, Pollner R, Kühn K (1988). "The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen ...
Multiplex ligation-dependent probe amplification
For example, probes may be designed to target various regions of chromosome 21 of a human cell. The signal strengths of the ... Pairs of probes are hybridized to the sample DNA, with each probe pair designed to query for the presence of a particular DNA ... to give the PCR product a unique length when compared to other probe pairs in the MLPA assay. Each complete probe pair must ... Although dosage quotients may be calculated for any pair of amplicons, it is usually the case that one of the pair is an ...
Short-beaked echidna
Weak identity between chromosomes results in meiotic pairing that yields only two possible genotypes of sperm, X1X2X3X4X5 or ... This similarity to primates and humans allows it to see distant objects clearly. Unlike placental mammals, including humans, ... for humans. This part of the brain in humans is thought to be used for planning and analytical behaviour, leading to debate as ... in which males have four Y chromosomes and five X chromosomes. Males appear to be X1Y1X2Y2X3Y3X4Y4X5 (figure), while females ...
Microtubule
Since each centrosome has a K fiber connecting to each pair of chromosomes, the chromosomes become tethered in the middle of ... "The Human Protein Atlas". www.proteinatlas.org. Archived from the original on 2017-05-01. Retrieved 2017-04-27. Hirokawa N, ... As the K fibers shorten the pair chromosomes are pulled apart right before cytokinesis. Previously, some researchers believed ... For example, +TIPs have been observed to participate in the interactions of microtubules with chromosomes during mitosis. The ...
Prostate cancer
For example, individuals with TT allele pair at SNP rs10993994 were reported to be at 1.6 times higher risk than those with the ... 37] reported that it caused reduction in the formation of 5-HETE in human leucocytes when used. MS can thus be considered a ... Loss of cancer suppressor genes, early in prostatic carcinogenesis, have been localized to chromosomes 8p, 10q, 13q, and 16q. ... Alimirah F, Chen J, Basrawala Z, Xin H, Choubey D (April 2006). "DU-145 and PC-3 human prostate cancer cell lines express ...
Genetic linkage
PMID 5882191 McKee, Bruce D. (2004-03-15). "Homologous pairing and chromosome dynamics in meiosis and mitosis". Biochimica et ... towards an understanding of the molecular basis of reduced penetrance in human inherited disease". Human genetics. 132 (10): ... when two genes are located on different chromosomes or when they are widely separated on the same chromosome. This is a ... While recombination of chromosomes is an essential process during meiosis, there is a large range of frequency of cross overs ...
DNA damage theory of aging
The DNA repair transcriptomes of the liver of humans, naked mole-rats and mice were compared. The maximum lifespans of humans, ... Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and are more sensitive ... However, in vertebrates there are CpG islands, about 300 to 3,000 base pairs long, with interspersed DNA sequences that deviate ... In human and mouse DNA, cytosine followed by guanine (CpG) is the least frequent dinucleotide, making up less than 1% of all ...
Gray fox
The chromosome number is 66 (diploid) with a fundamental number of 70. The autosomes include 31 pairs of sub-graded ... With the increase in human populations in North America, their habitat selection has adapted: Gray foxes that live near human ... The larger predators of the gray fox, like coyotes and bobcats, tend to avoid human-use areas and paved roads, making this ... These foxes apparently were transported by humans to the islands and from island to island, and are descended from a minimum of ...
Telomerase
... are located on different chromosomes. The human TERT gene (hTERT) is translated into a protein of 1132 amino acids. TERT ... Cells may reduce their telomere length by only 50-252 base pairs per cell division, which can lead to a long lag phase. A ... Telomeres protect the end of the chromosome from DNA damage or from fusion with neighbouring chromosomes. The fruit fly ... This treatment involves manipulating a human's immune system to destroy cancerous cells. Humans have two major antigen ...
Eva Longoria
As women have two X chromosomes and no Y chromosome, Longoria did not inherit her father's Y-DNA, but she did inherit her ... In terms of food-related promotions, in 2012 and 2013, Longoria paired with Iron Chef Michael Symon for a promotion for ... After a computer compared the DNA results of Gates's dozen guests, tests showed that she is anciently related by human ... Retrieved on September 18, 2011. The VAR Guy (October 23, 2012). "Eva Longoria and The VAR Guy: The Rumors Are False". " ...
Monotreme
... such as monotremes possessing 5 pairs of sex chromosomes and that one of the X chromosomes resembles the Z chromosome of birds ... Power, Michael L.; Schulkin, Jay (2012). The Evolution of the Human Placenta. Johns Hopkins University Press. pp. 68ff. ISBN ... June 2008). "Bird-like sex chromosomes of platypus imply recent origin of mammal sex chromosomes". Genome Res. 18 (6): 965-973 ... Additional reconstruction through shared genes in sex chromosomes supports this hypothesis of independent evolution. This ...
Ginger
In China, sliced or whole ginger root is often paired with savory dishes such as fish, and chopped ginger root is commonly ... Singh RJ (2011). Genetic Resources, Chromosome Engineering, and Crop Improvement. Medicinal Plants. Vol. 6. Boca Raton: CRC ... there is no good evidence that consuming ginger or its extracts has any effect on human health or as a treatment for diseases. ... paired with meat, when it is cooked. Candied ginger is sometimes a component of Chinese candy boxes, and a herbal tea can be ...
Peptidoglycan recognition protein 3
Human PGLYRP3 C-terminal PGRP domain, similar to PGLYRP1, has three pairs of cysteines, which form three disulfide bonds at ... and Pglyrp4 are encoded from the epidermal differentiation complex and are candidate genes for the Psors4 locus on chromosome ... Subsequently, the Human Genome Organization Gene Nomenclature Committee changed the gene symbols of PGRP-S, PGRP-L, PGRP-Iα, ... Human PGLYRP3 has synergistic bactericidal activity with antibacterial peptides. PGLYRP3 plays a limited role in host defense ...
No-SCAR (Scarless Cas9 Assisted Recombineering) Genome Editing
In terms of human health, it has applications to both specific diseases as well as stem cell systems that model these same ... Of this sequence, at least 15 base pairs should be homologous to the target sequence at both the 5' and 3' ends to provide ... Fortunately, the PAM NGG sequence occurs at 424,651 instances on both strands of the E. coli chromosome, so this method is not ... The no-SCAR method, as an improvement of the CRISPR/Cas system, will play an important role in modeling human disease using iPS ...
Evidence that a locus for familial high myopia maps to chromosome 18p
... is the most common human eye disorder. A genomewide screen was conducted to map the gene(s) associated with high, early-onset, ... Chromosome Mapping * Chromosomes, Human, Pair 18 / genetics* * Eye / pathology * Female * Genes, Dominant / genetics ... chromosomes 12q13.1-q13.3 and 6p21.3, respectively), Marfan syndrome (chromosome 15q21.1), and juvenile glaucoma (chromosome ... Evidence that a locus for familial high myopia maps to chromosome 18p Am J Hum Genet. 1998 Jul;63(1):109-19. doi: 10.1086/ ...
Chromosomes and DNA: MedlinePlus Medical Encyclopedia Image
... or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the bodys genes. ... Humans typically have 23 pairs chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which ... National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National ...
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NTSAD - Glossary - Chromosome
Chromosome - Structures found in the nucleus of the cell, which are visible under a microscope and which contain genetic ( ... Human cells contain 46 chromosomes, which come in pairs. There are twenty-two pairs of chromosomes which are referred to as ... The twenty-third pair are referred to as the sex chromosomes, and are called the X and Y chromosomes. Each chromosome contains ... Chromosome. Structures found in the nucleus of the cell, which are visible under a microscope and which contain genetic ( ...
Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: a multi-institutional retrospective study of 243...
keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Cell Differentiation, Child, Chromosomes, Human, Pair 18, Female, ... Humans, Male, Middle Aged, Neoplasm Metastasis, Oncogene Proteins, Fusion, Regression Analysis, Retrospective Studies, Sarcoma ... Synovial, Survival Rate, Translocation, Genetic, X Chromosome",. author = "Marc Ladanyi and Antonescu, {Cristina R} and Leung ... They consistently show a specific t(X;18;p11;q11), which usually represents either of two gene fusions, SYT-SSX1 or SYT-SSX2, ...
Identification of Paternal Uniparental Disomy on Chromosome 22 and a De-novo Deletion on Chromosome 18 in Individuals with...
Chromosomes, Human, Pair 18 Medicine & Life Sciences 77% * Chromosomes, Human, Pair 22 Medicine & Life Sciences 75% ... T1 - Identification of Paternal Uniparental Disomy on Chromosome 22 and a De-novo Deletion on Chromosome 18 in Individuals with ... Identification of Paternal Uniparental Disomy on Chromosome 22 and a De-novo Deletion on Chromosome 18 in Individuals with ... Identification of Paternal Uniparental Disomy on Chromosome 22 and a De-novo Deletion on Chromosome 18 in Individuals with ...
CENSORED: Resistance Grows Across America as Open Carry Armed Militias Peacefully March
August 18, 2020, a Virginia militia group peacefully marched in the capital of Richmond. Much of it was captured on video, and ... At the time, the first/top sequences that showed up were all human chromosome sequences. A few weeks later I did it again and ... 2nd link is NIH human genetic sequence code (chromosome 8). They match 18 base pairs in a row. Please read and spread info.!!! ... Virtually ALL the pcr primers being used to "detect covid-19" have 100% sequence identity with human chromosomal sequences. ...
National Horizons Centre - TeesRep
- Teesside University's Research Portal
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor...
You Don't Need Religion to Know Killing Babies in Abortions is Wrong - LifeNews.com
Humans have 23 pairs of chromosomes which are composed of genes, which are composed of DNA. Humans have around 20,000 genes on ... The human life in the womb has exactly the same number of chromosomes and genes as the mother and father and other humans, but ... Abortion kills this human being at an early stage of life and should be opposed by ethical human beings. To some it may also be ... Thoughtful humans innately know that human life is precious, and many vigorously oppose the death penalty for this reason. Even ...
Chromosomes, Human, Pair 4 | Profiles RNS
Human, Pair 4" by people in this website by year, and whether "Chromosomes, Human, Pair 4" was a major or minor topic of these ... A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 4" by people in Profiles. ...
Chromosomes, Human, Pair 20 | Profiles RNS
Human, Pair 20" by people in this website by year, and whether "Chromosomes, Human, Pair 20" was a major or minor topic of ... A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 20" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 20" by people in Profiles. ...
Publication : USDA ARS
In the human genome, FURIN and FES are located adjacent to one another on the distal q arm of human chromosome 15 (HSA15) in ... Technical Abstract: Fragment of the porcine feline sarcoma oncogene (FES) gene and paired basic amino acid cleaving enzyme gene ... In the human genome, FURIN and FES are located adjacent to one another on human chromosome 15q26. These genes were expected to ... Title: MAPPING OF THE FES AND FURIN GENES TO PORCINE CHROMOSOME 7 Author. ERNST, C.W. ...
Accumulation of pathological tau species and memory loss in a conditional model of tauopathy - Fingerprint
- Experts...
Mutation - Wikipedia
For example, in the Homininae, two chromosomes fused to produce human chromosome 2; this fusion did not occur in the lineage of ... HIV resistance: a specific 32 base pair deletion in human CCR5 (CCR5-Δ32) confers HIV resistance to homozygotes and delays AIDS ... In humans, the mutation rate is about 50-90 de novo mutations per genome per generation, that is, each human accumulates about ... Ségurel L, Bon C (August 2017). "On the Evolution of Lactase Persistence in Humans". Annual Review of Genomics and Human ...
Figure 3 - Genomic Analysis of Fluoroquinolone- and Tetracycline-Resistant Campylobacter jejuni Sequence Type 6964 in Humans...
Genome structures of the complete Campylobacter jejuni strain 15AR0984 chromosome and plasmid (15AR0984-m) isolated from humans ... High-scoring segment pairs between the 15AR0984 genome and the plasmid pcjDM ware connected with gray bars to illustrate the ... Genomic Analysis of Fluoroquinolone- and Tetracycline-Resistant Campylobacter jejuni Sequence Type 6964 in Humans and Poultry, ... Genomic Analysis of Fluoroquinolone- and Tetracycline-Resistant Campylobacter jejuni Sequence Type 6964 in Humans and Poultry, ...
AMP v. Myriad: Getting Beyond the Hype and Hyperbole* - IPWatchdog.com | Patents & Intellectual Property Law
... derived from human chromosome 17q," but also "functions" differently from how that "sequence" operates in native environment. ... A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chain reaction ... the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain ... The big question is whether those "pair of single-stranded DNA primers " are not only chemical different from the "sequence of ...
EPO - T 2437/13 (Coronavirus/AMSTERDAM INSTITUTE) of 19.6.2019
About 20 distinct DNA fragments were obtained, most of which matched human chromosome sequences (see page 1971, left column). ... culture supernatant of Vero cells with a CPE was reverse transcribed and randomly amplified using 15 different primer pairs ... when the nasopharyngeal clinical sample of the 7 month old child was inoculated onto a variety of cells including human ... 18. Moreover, if the rounding up of the percentage of sequence identity were accepted under the present circumstances, it would ...
Loss of Phosphatase and tensin homologue deleted on chromosome 10 engages ErbB3 and insulin-like growth factor-I receptor...
Chromosomes, Human, Pair 10 100% * Estradiol 13% * Estrogen Receptor Modulators 98% * Estrogen Receptors 71% ... Dive into the research topics of Loss of Phosphatase and tensin homologue deleted on chromosome 10 engages ErbB3 and insulin- ... Loss of Phosphatase and tensin homologue deleted on chromosome 10 engages ErbB3 and insulin-like growth factor-I receptor ...
Human Genome Project: Junk DNA Is Still A Mystery - Earthfiles
Chromosomes have the four "letters" of genetic code: A, C, G, T (adenine, thymine, cytosine and guanine) which pair off in ... Since the human genome was 3 billion base pairs, just doing the math, it seemed that if the average gene was 30,000 base pairs ... on the 46 human chromosomes of DNA. Graphic © 2002 The Center for the Advancement of Genomics (TCAG).. Each chromosome is one ... Each chromosome is one long string of DNA carrying genetic code to build a human body. Graphic © 2002 The Center for the ...
Molecular Genetics - Research output - Research Nebraska
Trisomy 6q Chromosome 6 100% * Chromosomes, Human, Pair 6 63% * Chromosome Duplication 36% ... Smith, S. C., Althof, P. A., Dave, B. J. & Sanmann, J. N., Jan 2021, In: Genes Chromosomes and Cancer. 60, 1, p. 55 1 p.. ... Smith, S. C., Althof, P. A., Dave, B. J. & Sanmann, J. N., Oct 1 2020, In: Genes Chromosomes and Cancer. 59, 10, p. 569-574 6 p ... Wang, M., Wang, J. Y., Cisler, J., Imaizumi, K., Burton, B. K., Jones, M. C., Lamberti, J. J. & Godfrey, M., 1997, In: Human ...
Arpana Agrawal - Research output
- Research Profiles at Washington University School of Medicine
A new mouse insertional mutation that causes sensorineural deafness and vestibular defects - Fingerprint - University of...
A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with...
Chromosomes, Human, Pair 2 Medicine & Life Sciences 20% * Phenotype Medicine & Life Sciences 18% ... Tsai, L. P., Liao, H. M., Chen, Y. J., Fang, J. S., & Chen, C. H. (2009). A novel microdeletion at chromosome 2q31.1-31.2 in a ... Tsai, LP, Liao, HM, Chen, YJ, Fang, JS & Chen, CH 2009, A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation ... HOXD gene cluster maps to chromosome 2q31 and plays a key role in embryonic limb morphogenesis. Mutations of the HOXD13 and ...
DeCS
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.. ... A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. ... Chromosomes, Human, Pair 18 - Preferred Concept UI. M0004426. Scope note. ... Chromosomes, Human, Pair 16 [A11.284.187.520.300.415.420] Chromosomes, Human, Pair 16 ...
Chapter 9 Flashcards
The order of bases on all twenty-three pairs of human chromosomes.. ... Fewer than eighteen DNA-bearing cells.. Term. Mitochondria. Definition. Small structures outside the nucleus that supply energy ... A region of a chromosome that contains multiple copies of a core DNA sequence that are arranged in a repeating fashion.. ... The specific pairing of base A with T and base C with G in double-stranded DNA.. ...
A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands. ...
A locus on chromosome 18p in patients with high BMI was suggested earlier by Parker et al. Our study is the first to confirm ... The strongest evidence for a type 2 diabetes locus was at marker D18S63 on chromosome 18p (LOD 2.3, P = 0.0006). This region ... Alleles, Body Mass Index, Chromosome Mapping, Chromosomes, Human, Pair 18, Demography, Diabetes Mellitus, Type 2, Founder ... A locus on chromosome 18p in patients with high BMI was suggested earlier by Parker et al. Our study is the first to confirm ...
LE CONVULSIONI INFANTILI FAMILIARI BENIGNE: ASPETTI CLINICI E GENETICI<...
Chromosomes, Human, Pair 20 Medicine & Life Sciences 28% * Epileptic Syndromes Medicine & Life Sciences 24% ... preliminary results from genetic studies performed on chromosome 20, fail to show the typical marker, indicating a different ... preliminary results from genetic studies performed on chromosome 20, fail to show the typical marker, indicating a different ... preliminary results from genetic studies performed on chromosome 20, fail to show the typical marker, indicating a different ...
TARGETING TELOMERES AND CANCER FOR 'DUMMIӘS' | SCQ
The internal clock is essentially represented by the ends of chromosomes. All chromosomes are capped by a protective end of non ... This is a specialized form of DNA pairing called G4 DNA. G4 DNA causes a structural change in the telomere resulting in a ... 90% of all human tumors have activated telomerase, confirming their immortality. Telomerase and immortality are the strength of ... Seen in the figure, telomeres are at the ends of all chromosomes (marked in red). As previously mentioned, as we age our cells ...
2022DeletionGenome2020ProteinsFluorescence in situ hybriStructures2017Long arm of chromosome2021MappingGenes are locatedLinkageMaps to chromosomeRegion of chromosomeUnique fingerprintMouse chromosomeDetermine the sexEukaryoticMarkerCarcinogenesisChromosomalGeneticsMeSHPhenotypeMitosisOrganismSusceptibilityLocusThreadlikeCellsAutosomal recessiveCellSegmentTranscriptionalAbnormalitiesMutationNucleusRearrangeEpidemiologicalCancerCytogeneticBovineCopiesRadiationProteinNucleotidesAdultDisordersSyndromeTightlyIARC MonographsMiceDiseasesMalesVariationsMother'sUnbornSequenceClassificationGametesDefinitionIndividualsMolecule
20222
- 18(1): 86, 2022 Jun 21. (bvsalud.org)
- Sep 22, 2022 Telomere vesicles retained the Rad51 recombination factor that enabled telomere fusion with T-cell chromosome ends lengthening them by an average of 3,000 base pairs. (hilfenetzwerk-cic.de)
Deletion5
- We also identified a de novo deletion on chromosome 18. (dundee.ac.uk)
- A recent study of over 18 thousand of pregnancies published in the American Journal of Obstetrics & Gynecology demonstrated that 22q11.2 deletion syndrome is more common than previously reported.2 Read on to learn more about 22q11.2 and how to identify it during pregnancy. (natera.com)
- A deletion is a type of chromosomal condition in which a piece of a chromosome is missing. (natera.com)
- 22q11.2 deletion syndrome is caused by a microdeletion in a specific region of chromosome 22. (natera.com)
- Amplification and deletion of mouse chromosome 4 in lung cancer. (cdc.gov)
Genome26
- Two genes feline sarcoma oncogene (FES) and paired basic amino acid cleaving enzyme gene (FURIN) were mapped in the genome of the pig. (usda.gov)
- In the human genome, FURIN and FES are located adjacent to one another on human chromosome 15q26. (usda.gov)
- Localizing these genes in the pig genome improves the human-pig comparative map thus facilitating identification of positional candidate genes to study which affect fat deposition. (usda.gov)
- In the human genome, FURIN and FES are located adjacent to one another on the distal q arm of human chromosome 15 (HSA15) in the cytogenetic band q26.1 Genes located in this region are conserved on the proximal q arm of SSC7. (usda.gov)
- [22] For example, more than a million copies of the Alu sequence are present in the human genome , and these sequences have now been recruited to perform functions such as regulating gene expression . (wikipedia.org)
- Genome structures of the complete Campylobacter jejuni strain 15AR0984 chromosome and plasmid (15AR0984-m) isolated from humans and poultry, New Zealand, 2014-2016, compared with the closest plasmid (pcjDM) sequence found in GenBank. (cdc.gov)
- High-scoring segment pairs between the 15AR0984 genome and the plasmid pcjDM ware connected with gray bars to illustrate the similar shared regions except for the backbone regions, which were highly conserved across the pTet-like plasmid genomes. (cdc.gov)
- As I know, and many others far more knowledgeable in the field of molecular biology might know, the Myriad opinion essentially addresses only that 2% of the human genome that follows the pre-ENCODE approach to genetics. (ipwatchdog.com)
- The other 98% of the human genome which doesn't follow the pre-ENCODE linear approach and which is actually three-dimensional in structure is still in play (and in view of ENCODE would likely require splicing together at least two distinct DNA sequences to code for the polypeptide which "mother nature" doesn't do). (ipwatchdog.com)
- Inside each of those cells is the nucleus that contains the genome-46 human chromosomes which have the blueprint for building a human body. (earthfiles.com)
- Those "genome" instructions are laid out in 3 billion "letters" on the 46 human chromosomes of DNA. (earthfiles.com)
- The Human Genome Project expected to find at least 100,000 genes were necessary to create a human body. (earthfiles.com)
- You might say the human genome book has a more advanced text, but it still takes 3 billion letters to write out those 22,000 words. (earthfiles.com)
- Now we come to the current main problem in the Human Genome Project: what is the punctuation in a string of 3 billion letters? (earthfiles.com)
- Then the first paragraph stated: "A group of researchers working at the Human Genome Project indicate that they made an astonishing scientific discovery: They believe so-called 97% non-coding sequences in human DNA is no less than genetic code of extraterrestrial life forms. (earthfiles.com)
- The Canadian blog says the name of the Human Genome Project "group leader" responsible for the discovery that junk DNA is genetic code of E.T.s is Prof. Sam Chang. (earthfiles.com)
- There, he was the lead scientist in that university's efforts to map the human genome, as well as mouse and chicken genomes. (earthfiles.com)
- Think of the human genome as a very large deck of cards, each card bearing a gene variant. (discovermagazine.com)
- Here we present a chromosome-level genome assembly for bowfin that enables gene-order analyses, settling long-debated neopterygian phylogenetic relationships. (nature.com)
- Although the sequence of the human genome has been completely determined by DNA sequencing, it is not yet fully understood. (scitechnol.com)
- Recent results suggest that the bulk of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of natural phenomenon, organization of chromosome architecture, and signals controlling epigenetic inheritance. (scitechnol.com)
- Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of complex rearrangements. (elsevier.com)
- The Office was formed in 1997 to assess the impact of advances in human genetics and the Human Genome Project on public health and disease prevention. (cdc.gov)
- During this talk, I will tell two such stories: 1) Structural variations in the human genome originate from different mechanisms related to DNA repair, replication, and retro-transposition. (jcbose.ac.in)
- Analyses were performed to understand how chromatin organization and/or epigenome affects origin of structural variations in human genome. (jcbose.ac.in)
- This study also indicated a potential beneficial role of repetitive elements in the human genome. (jcbose.ac.in)
20201
- Last Tuesday, August 18, 2020, a Virginia militia group peacefully marched in the capital of Richmond. (healthimpactnews.com)
Proteins5
- They consistently show a specific t(X;18;p11;q11), which usually represents either of two gene fusions, SYT-SSX1 or SYT-SSX2, encoding putative transcriptional proteins differing at 13 amino acid positions. (uea.ac.uk)
- The main reason for the smaller number of genes than expected is that human genes are capable of multi-tasking the production of proteins. (earthfiles.com)
- Scientists have long been puzzled by the fact that 97% of the DNA in human cells does not code for proteins and appears to consist of meaningless and repeating sequences. (earthfiles.com)
- Previous reports suggest that electrical forces on cell structure proteins interfered with the chromosome separation during mitosis and induced apoptosis. (nature.com)
- the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. (utsouthwestern.edu)
Fluorescence in situ hybri1
- We identified and validated an interstitial microdeletion of ∼3.4Mb at chromosome 2q31.1-31.2 by array-based comparative genomic hybridization, fluorescence in situ hybridization, and real-time quantitative polymerase chain reaction that cosegregates with the clinical phenotypes in this family. (nycu.edu.tw)
Structures4
- The German scientists Schleiden , [5] Virchow and Bütschli were among the first scientists who recognized the structures now familiar as chromosomes. (wikimili.com)
- Inside our cells, our DNA is packaged into tightly wrapped structures called chromosomes. (natera.com)
- The compactness of chromosomes plays an important role in helping to rearrange genetic material during cell division and enabling it to suit inside structures just like the nucleus of a cell, the standard diameter of which is about the polygonal head of a plague particle, which may be within the structure and site of chromosomes are among the chief differences between viruses, prokaryotes, and eukaryotes. (scitechnol.com)
- Telomeres are small structures that protect the ends of your chromosomes. (hilfenetzwerk-cic.de)
20171
- Additionally, campaign strategies and respective vaccination coverage of influenza seasons between 2017/18 and 2019/20 were analysed. (bvsalud.org)
Long arm of chromosome2
- The delineation of the microdeletion region may contribute to the genotype-phenotype correlation study in patients with genomic rearrangements of the long arm of chromosome 2 and helps to understand the pathogenesis of haploinsufficiency of the HOXD gene cluster. (nycu.edu.tw)
- An inversion in the long arm of chromosome 3--inv(3)(q21q26)--or a translocation between both homologous chromosomes 3--t(3;3)(q21;q26)--is found specifically in myeloid neoplasias characterized by disturbances of thrombopoiesis and megakaryocyte development. (mdc-berlin.de)
20211
- 2021 Nov;258-259:18-22. (elsevier.com)
Mapping2
- In addition, FES and FURIN map within the confidence intervals of several putative QTL for pig fatness traits, and mapping of FES and FURIN to this region improves the human-pig comparative map for HSA15 and SSC7 thus facilitating identification of positional candidate genes. (usda.gov)
- We used Spectral Karyotyping (SKY), mapping with fluorescently labeled genomic clones (FISH), comparative genomic hybridization (CGH) on a BAC array, 5 kB NimbleGen CGH array, expression array, real time polymerase chain reaction and Western blot to analyze 15 primary adenocarcinoma and 9 pairs of high and low invasive cell cultures to detect molecular changes. (cdc.gov)
Genes are located2
- The majority of the differentially expressed genes are located, like fmr1, on Chromosome 14. (edu.au)
- These genes are located on the chromosomes of the creature. (emborapets.com)
Linkage5
- After a genomewide search, evidence of significant linkage was found on chromosome 18p. (nih.gov)
- We recently reported linkage to chromosome 1p36 (the PARK7-locus) in a family with early-onset parkinsonism. (eur.nl)
- The differential expression of functionally related genes due to mutation of fmr1, and located on the same chromosome as fmr1, is consistent with R.A. Fisher's assertion that the selective advantage of co-segregation of particular combinations of alleles of genes will favour, during evolution, chromosomal rearrangements that place them in linkage disequilibrium on the same chromosome. (edu.au)
- The homologous linkage groups on human chromosomes 9p21, 1p36 and 9q are altered in human lung adenocarcinoma. (cdc.gov)
- The development of linkage disequilibrium (LD) maps is very important for understanding the nature of non-linear association between phenotypes and genes, as LD can be defined as the non-random segregation of a pair of alleles at polymorphic sites. (embrapa.br)
Maps to chromosome1
- HOXD gene cluster maps to chromosome 2q31 and plays a key role in embryonic limb morphogenesis. (nycu.edu.tw)
Region of chromosome1
- Analysis of genes within the deleted region of chromosome 4 demonstrated decreased expression of the cell cycle inhibitory factor p16 at 39 cM, the NR4A3 receptor involved in apoptosis at 42.7 cM, the differentiation factor Forkhead Box D3 at 45 cM and the apoptotic factor Cathepsin D at 50 cM. (cdc.gov)
Unique fingerprint1
- The unique fingerprint that each of us has - distinguishing us from any other human on the planet, is determined by that DNA at day one! (givehim15.com)
Mouse chromosome1
- The Nlvcf mouse homolog is 75% identical in amino acid sequence and maps to the orthologous region on mouse chromosome 16. (elsevier.com)
Determine the sex1
- There are twenty-two pairs of chromosomes which are referred to as autosomes, because they do not determine the sex of an individual. (ntsad.org)
Eukaryotic2
- The chromosomes of a eukaryotic cell consist primarily of DNA attached to a protein core. (scitechnol.com)
- The remainder of this text pertains to eukaryotic chromosomes. (scitechnol.com)
Marker2
- The strongest evidence for a type 2 diabetes locus was at marker D18S63 on chromosome 18p (LOD 2.3, P = 0.0006). (ox.ac.uk)
- Although many are the similarities with the syndrome of benign neonatal familial convulsions, preliminary results from genetic studies performed on chromosome 20, fail to show the typical marker, indicating a different genetic origin. (elsevier.com)
Carcinogenesis3
- Carcinogenesis 18:1085-1092. (cdc.gov)
- mechanisms of carcinogenesis chapter 18. (who.int)
- The generality of induction of Two major issues faced when city in humans is clear, but in other and response to radiation damage studying radiation carcinogenesis is cases the data are few or non-exist- is discussed for all types of ionizing that radiation-induced cancers are ent. (who.int)
Chromosomal3
- A chromosomal condition is a type of genetic condition that occurs when there are extra or missing chromosomes (aneuploidy) or pieces of chromosomes (duplications or deletions). (natera.com)
- Chromosomal changes in addition to the 3q anomalies were demonstrated in 14 out of 18 patients, predominantly numerical and structural aberrations of chromosome 7 (12 cases) and/or abnormalities of 5q (five cases). (mdc-berlin.de)
- Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay showing increased chromosomal breaks can make the diagnosis. (wikipedia.org)
Genetics5
- In summary, genetics demonstrates these facts: The unborn child is genetically human and genetically unique, and left to a normal course will grow until birth, grow to walk, to talk and do all the things other humans can do. (lifenews.com)
- I could not find any Google listing for Prof. Sam Chang, so I decided to get a reality check on the truth from John McPherson, Ph.D. Dr. McPherson is currently Associate Professor in the Dept. of Human and Molecular Genetics at Baylor College of Medicine in Houston, Texas. (earthfiles.com)
- In 1998 she was recruited from Helsinki University to become the founding chairwoman of the Department of Human Genetics at UCLA's medical school. (discovermagazine.com)
- Let us start by talking about human genetics so that we have a baseline to work off of. (emborapets.com)
- Cancer Genetics , 258-259 , 18-22. (elsevier.com)
MeSH1
- Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)
Phenotype1
- A set of 56 SNP locus/phenotype associations was identified and the genomic regions harboring these loci were distributed over nine of the 12 eggplant chromosomes. (biomedcentral.com)
Mitosis1
- Nearly all methods of chromosome banding believe harvesting chromosomes in mitosis [ 10 , 11 ]. (scitechnol.com)
Organism1
- A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikimili.com)
Susceptibility2
- Independent susceptibility markers for atrial fibrillation on chromosome 4q25. (musc.edu)
- Alteration in copy number and expression of the genes on chromosome 4 may play a functional role in lung cancer development and may aid in the identification of mouse and human lung cancer susceptibility genes. (cdc.gov)
Locus2
- A locus on chromosome 18p in patients with high BMI was suggested earlier by Parker et al. (ox.ac.uk)
- Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms tumor locus. (medscape.com)
Threadlike1
- Chromosome, the microscopic threadlike an area of the cell that carries hereditary information within the sort of genes. (scitechnol.com)
Cells13
- January 18, 2007 Houston, Texas - The human body has about 100 trillion cells. (earthfiles.com)
- Every one of the 100 trillion cells in the human body has a blueprint about how to build that body. (earthfiles.com)
- Fewer than eighteen DNA-bearing cells. (flashcardmachine.com)
- [5] In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation . (wikimili.com)
- Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. (wikimili.com)
- A defining feature of any chromosome is its compactness as an example, the 46 chromosomes found in human cells have a combined length of if the chromosomes were to be unraveled, and the genetic material they contain would measure roughly long [ 7 - 9 ]. (scitechnol.com)
- Among organisms with prokaryotic cells (bacteria and blue-green algae), chromosomes consist entirely of DNA. (scitechnol.com)
- So humans are composed of several cells which are controlled by DNA. (emborapets.com)
- These chromosomes were originally contained in gametes which are the sex cells of the body, or the sperm and the egg. (emborapets.com)
- Based on these chromosomes, the skin cells of the snake are produced and each cell has a certain number of genes turned on and off. (emborapets.com)
- A creatures chromosomes are inherited in two sets from the gametes, or sex cells of each parent. (emborapets.com)
- 5. In 2001, France and Germany requested the United Nations General Assembly to develop international conventions on human reproductive cloning, therapeutic cloning and research on stem cells. (who.int)
- Organoids from human pluripotent cells can be used to model cerebral cortical development. (jcbose.ac.in)
Autosomal recessive2
- This is a mild form of autosomal recessive spinal muscular atrophy that appears after age 18 months. (medscape.com)
- FANCB is the one exception to FA being autosomal recessive , as this gene is on the X chromosome. (wikipedia.org)
Cell12
- The DNA in every cell contains the whole book about how to make a human body. (earthfiles.com)
- 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). (wikimili.com)
- In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikimili.com)
- The sole chromosome of a prokaryotic cell isn't enclosed within a nuclear membrane. (scitechnol.com)
- Excessively long incubations with colcemid end in over condensed chromosomes that band poorly and moreover some cell types, especially those from the mouse, eventually escape the colcemid block and proceed through the cell cycle [ 12 ]. (scitechnol.com)
- The medial portion of chromosome 4 was deleted in 66.0% + 12.0 of the cell lines. (cdc.gov)
- Duplication of chromosome 4 at 10 to 35 cM occurred in 68.0% + 11.0 of the cell cultures. (cdc.gov)
- There are 23 pairs of chromosomes in the cell of human body. (solutionsclass.com)
- The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (solutionsclass.com)
- Rapid degradation of condensin I and condensin II - two essential regulators of mitotic chromosome structure - revealed that both complexes are individually required for cell division in precursor lymphocytes, but not in their differentiated peripheral lymphocyte derivatives. (elifesciences.org)
- Every human being has a pair of sex chromosomes in each cell. (alphabiolabs.ie)
- Seven polymorphic sites in the beta-globin gene cluster were analyzed on a sample of 96 chromosomes of Venezuelan sickle cell patients from the State of Aragua. (embrapa.br)
Segment4
- These genes were expected to map to a segment of pig chromosome 7 containing several QTL associated with body composition. (usda.gov)
- During Drosophila embryogenesis, paired acts as one of several pair-rule genes that define the boundaries of future parasegments and segments, via the regulation of segment polarity genes such as gooseberry, which in turn regulates gooseberry-neuro, a gene expressed later in the developing nervous system. (biologists.com)
- Gradients of maternal information act at the top of a genetic hierarchy that involves the sequential activation of the zygotic gap, pair-rule, and segment polarity genes. (biologists.com)
- We mapped the causative variant to a 37 kb segment on bovine chromosome 3. (plos.org)
Transcriptional1
- [1] [2] These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation . (wikimili.com)
Abnormalities1
- In addition, dysregulation of HOXD gene cluster has been proposed to account for the limb abnormalities in patients with chromosome 2q rearrangements. (nycu.edu.tw)
Mutation1
- However, we cannot exclude that the apparent differential expression of genes on Chromosome 14 genes was, (if only in part), caused by differences between the expression of alleles of genes unrelated to the effects of the fmr1 hu2787 mutation and made manifest due to the limited, but non-zero, allelic diversity between the genotypes compared. (edu.au)
Nucleus2
- Among eukaryotes, the chromosomes are contained during a membrane-bound nucleus. (scitechnol.com)
- The chromosomes may be seen, and the nucleus is rather massive. (risingacademy.org)
Rearrange1
- Changes in chromosome number may involve even larger mutations, where segments of the DNA within chromosomes break and then rearrange. (wikipedia.org)
Epidemiological1
- In addition to the above-mentioned rely on epidemiological data for which izing radiation should be considered reviews in the IARC Monographs , statistical significance is reached as carcinogenic to humans (Group 1). (who.int)
Cancer5
- Genes Chromosomes and Cancer. (nebraska.edu)
- Objectives: To evaluate the prognostic significance of phosphorylated Akt (p-Akt), phosphorylated mammalian target of rapamycin (p-mTOR), and total phosphatase and tensin homolog deleted on chromosome 10 (PTEN) expressions in patients undergoing adjuvant chemoradiotherapy (CRT) for proximal extrahepatic bile duct (EHBD) cancer. (ewha.ac.kr)
- 1979. Chemicals and industrial processes associated with cancer in humans. (cdc.gov)
- We sequenced 3 whole genomes and 88 whole exomes, of all CLL tumors and paired the germline DNA," said Dr. Wan, who is from the Department of Medical Oncology at the Dana-Farber Cancer Center in Boston, Massachusetts. (medscape.com)
- In support of this idea are the linea that the colorectal tumor suppressor protein DCC has some structural homology to LAR438 and that the LAR gene maps to a linds on chromosome 1p32-33 that is thought e contain a breast cancer tumor sup- pressor gene. (qrforex.com)
Cytogenetic1
- Cytogenetic findings were correlated with clinical and hematological data in altogether 18 patients with acute nonlymphocytic leukemia (ANLL) and with inv(3) (13 patients) or t(3;3) (five patients), six of whom were male and 12 who were female. (mdc-berlin.de)
Bovine1
- Public and animal health controls to limit human exposure to animal prions are focused on bovine spongiform encephalopathy (BSE), but other prion strains in ruminants may also have zoonotic potential. (cdc.gov)
Copies2
- A region of a chromosome that contains multiple copies of a core DNA sequence that are arranged in a repeating fashion. (flashcardmachine.com)
- [4] 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. (wikimili.com)
Radiation1
- Because since the creation of atomic bombs in the 1940s, scientists have tried to understand what radiation does to human bodies and what mutations it causes in human DNA. (earthfiles.com)
Protein2
- To investigate whether sheep infected with scrapie prions could be another source of infection, we inoculated transgenic mice that overexpressed human prion protein with brain tissue from sheep with natural field cases of classical and atypical scrapie, sheep with experimental BSE, and cattle with BSE. (cdc.gov)
- XV" YOL105C 1 15 18 YOL105C "Putative integral membrane protein containing novel cysteine motif. (davidson.edu)
Nucleotides1
- Chromosomes have the four "letters" of genetic code: A, C, G, T (adenine, thymine, cytosine and guanine) which pair off in nucleotides. (earthfiles.com)
Adult3
- The human NLVCF transcript is 1.3 kb in size and is expressed at varying levels in many fetal and adult tissues. (elsevier.com)
- A woman is an adult female human. (dveyewear.shop)
- Achievement of final adult height consistent with a child's genetic potential remains the primary therapeutic endpoint for recombinanat human growth hormone (rhGH) therapy in the pediatric population. (medscape.com)
Disorders2
- Movement Disorders (Vol. 18, pp. 751-757). (eur.nl)
- 2) Genes implicated in neuropsychiatric disorders are active in human fetal brain, yet difficult to study in a longitudinal fashion. (jcbose.ac.in)
Syndrome4
- Markers flanking or intragenic to the genes for Stickler syndrome types 1 and 2 (chromosomes 12q13.1-q13.3 and 6p21.3, respectively), Marfan syndrome (chromosome 15q21.1), and juvenile glaucoma (chromosome 1q21-q31) were also analyzed. (nih.gov)
- For example, trisomy 21 (Down syndrome) is caused by an extra chromosome 21. (natera.com)
- In ten out of our 18 patients a preceding myelodysplastic syndrome (MDS) and/or exposure to mutagenic/carcinogenic agents had been established. (mdc-berlin.de)
- Down syndrome (DS) is the most common an important study variable and major international genetic disorder, resulting from an extra health agencies recommend the monitoring of chromosome in pair 21. (bvsalud.org)
Tightly1
- Each chromosome is one long string of DNA that is tightly coiled in a compact bundle. (earthfiles.com)
IARC Monographs1
- IARC Monographs on the evaluation of the carcinogenic risk of chemicals to humans. (cdc.gov)
Mice4
- NLVCF and HIRA are divergently transcribed, and their start codons lie approximately 1 kb apart in both humans and mice. (elsevier.com)
- One approach involves the experimental transmission of disease by inoculating homogenized brain tissue from affected animals into transgenic mice that are overexpressing 1 of the 2 common polymorphic forms of the human PrP (either methionine or valine at residue 129) on a mouse PrP null background ( 16 ). (cdc.gov)
- A complex structural rearrangement involving duplication of the KIT gene was identified in belted pigs, whose belt includes the forelimbs and is localized more cranially than the one in Adamts20 mutant mice [ 18 , 19 ]. (plos.org)
- icologic and metabolic data that explain the nasal and major differences are 4- to 10-fold more ring-oxidation lung differences and their relevance for human risk and phenylacetaldehyde pathways in mice compared assessment. (cdc.gov)
Diseases1
- Researchers, journalists, and inquiring minds want to know more about telomeres, which seem to hold clues to human aging and age-related diseases. (cdc.gov)
Males2
- In human males, all the chromosomes are paired perfectly except one. (jbrconsultant.com)
- The Y chromosome is present in males, who have one X and one Y chromosome, while females have two X chromosomes. (alphabiolabs.ie)
Variations1
- Chromosome copy number variations (CNVs) at cytobands 4q13.3-4q28.3 and 9p11.2-9q13 correlated with GCT malignancy and clinical risk. (biomedcentral.com)
Mother's2
- The unborn child is not part of the mother's body but is a separate human being in the earliest stage of life. (lifenews.com)
- For a baby gender test, the mother's blood sample is analysed by our in-house geneticists, who use Next Generation Sequencing to determine if foetal DNA with a Y chromosome is present in the mother's blood stream. (alphabiolabs.ie)
Unborn3
- The genetic makeup of that unborn life is clearly human, not a bird or a fish or a cat. (lifenews.com)
- The unborn human is neither the mother nor the father. (lifenews.com)
- Although ultrasound scans are commonly used to determine the gender of an unborn baby between weeks 18 and 22 of pregnancy, these scans are not always correct. (alphabiolabs.ie)
Sequence1
- These 9 genes were mutated significantly more often than the background rate, given their sequence composition across all 91 CLL/normal pairs, note the researchers. (medscape.com)
Classification1
- A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. (musc.edu)
Gametes2
- When these two gametes successfully combine, then you have a child born who is composed of 46 chromosomes two pairs of 23, one from each parent. (emborapets.com)
- There are no individuals that produce intermediate forms of gametes who can be the basis of a third reproductive class of humans. (whyevolutionistrue.com)
Definition1
- And using that (accepted) definition creates an effective binary in humans: if you can make sperm you're male, if you can make eggs you're female. (whyevolutionistrue.com)
Individuals1
- WHA50.37, which states "the use of cloning for the replication of human individuals is ethically unacceptable and contrary to human integrity and morality. (who.int)
Molecule3
- Strangely, there is a lot of junk DNA in the human DNA molecule. (earthfiles.com)
- Different fragment lengths of base pairs that result from cutting a DNA molecule with restriction enzymes. (flashcardmachine.com)
- A region of a DNA molecule that contains short segments of three to seven repeating base pairs. (flashcardmachine.com)