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
Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3. (1/861)
During our search for the familial Mediterranean fever (FMF) gene, we identified by cDNA selection a 1.2 kb cDNA fragment representing a novel human gene that is expressed in a wide variety of tissues. This gene spans approx. 8.0 kb genomic DNA and has seven exons. Its 3' untranslated region contains a long tandem repeat that gives rise to a polymorphism with two alleles of approx. 1.1 kb and 1.0 kb, with the 1.1 kb allele in strong linkage disequilibrium with FMF in patients of different ethnic backgrounds. However, both genetic and mutational analyses have excluded this gene as the one responsible for FMF. The predicted 424 amino acid protein, designated ZNF213, contains three C2H2 zinc fingers, a Kruppel associated A box and a leucine rich motif (LeR domain/SCAN box), strongly suggestive of a transcription factor. (+info)Townes-Brocks syndrome. (2/861)
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few. (+info)Analysis of p16 (CDKN2/MTS-1/INK4A) alterations in primary sporadic uveal melanoma. (3/861)
PURPOSE: To define more clearly the role of the tumor suppressor gene p16 in uveal melanoma by determining the relative contribution of all known mechanisms of p16 inactivation in this tumor. METHODS: A comprehensive genetic analysis of the p16 gene was performed in 33 primary sporadic ciliochoroidal and choroidal melanomas. Fourteen highly polymorphic microsatellite markers surrounding the p16 locus on chromosome 9p21 were used for the microsatellite analysis. Sequence analysis of the p16 gene was performed on those tumors with 9p21 loss of heterozygosity. To investigate methylation as an alternative mechanism of inactivation of p16, methylation-specific polymerase chain reaction was performed on all tumor DNA samples. RESULTS: Loss of heterozygosity (LOH) was found in 8 of 33 (24%) uveal melanomas. No evidence of a second region of LOH that did not include the p16 locus was found. Four cases had hemizygous losses including markers both distal and proximal to p16. Homozygous deletion of the p16 gene was detected in the 4 remaining cases by microsatellite analysis. Sequence analysis revealed no p16 mutations in the tumors with hemizygous loss of p16. Methylation of the 5' CpG island of p16 was found in one tumor with 9p21 LOH and in another without LOH. CONCLUSIONS: p16 inactivation by HD or methylation occurs in 27% of uveal melanomas, representing the most common molecular genetic alteration identified thus far in uveal melanoma. (+info)Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3. (4/861)
The recently identified Fanconi anaemia A (FAA) gene is located on chromosomal band 16q24.3 within a region that has been frequently reported to show loss of heterozygosity (LOH) in breast cancer. FAA mutation analysis of 19 breast tumours with specific LOH at 16q24.3 was performed. Single-stranded conformational polymorphism (SSCP) analysis on cDNA and genomic DNA, and Southern blotting failed to identify any tumour-specific mutations. Five polymorphisms were identified, but frequencies of occurrence did not deviate from those in a normal control population. Therefore, the FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer. Another tumour suppressor gene in this chromosomal region remains to be identified. (+info)Alternative splicing determines the intracellular localization of the novel nuclear protein Nop30 and its interaction with the splicing factor SRp30c. (5/861)
We report on the molecular cloning of a novel human cDNA by its interaction with the splicing factor SRp30c in a yeast two-hybrid screen. This cDNA is predominantly expressed in muscle and encodes a protein that is present in the nucleoplasm and concentrated in nucleoli. It was therefore termed Nop30 (nucleolar protein of 30 kDa). We have also identified a related cDNA with a different carboxyl terminus. Sequencing of the NOP gene demonstrated that both cDNAs are generated by alternative 5' splice site usage from a single gene that consists of four exons, spans at least 1800 nucleotides, and is located on chromosome 16q21-q23. The alternative 5' splice site usage introduces a frameshift creating two different carboxyl termini. The carboxyl terminus of Nop30 is rich in serines and arginines and has been found to target the protein into the nucleus, whereas its isoform is characterized by proline/glutamic acid dipeptides in its carboxyl terminus and is predominantly found in the cytosol. Interaction studies in yeast, in vitro protein interaction assays, and co-immunoprecipitations demonstrated that Nop30 multimerizes and binds to the RS domain of SRp30c but not to other splicing factors tested. Overexpression of Nop30 changes alternative exon usage in preprotachykinin and SRp20 reporter genes, suggesting that Nop30 influences alternative splice site selection in vivo. (+info)Comparative genomic hybridization of breast tumors stratified by histological grade reveals new insights into the biological progression of breast cancer. (6/861)
How does breast cancer progress? There is evidence both to support (S. W. Duffy et al., Br. J. Cancer, 64: 1133-1138, 1991; R. Rajakariar et al., Br. J. Cancer, 71: 150-154, 1995) and refute (M. Hakama et al., Lancet, 345: 221-224, 1995; R. R. Millis et al., Eur. J. Cancer, 34: 548-553, 1998) the hypothesis of dedifferentiation; the theory that as breast cancers grow they evolve from well differentiated (grade I) to poorly differentiated (grade III) tumors. We provide evidence to support the view that the majority of grade I tumors do not progress to grade III tumors. Comparative genomic hybridization was used to screen entire genomes of a large sample (40 grade I and 50 grade III) of invasive ductal breast carcinomas, stratified by grade. We found distinct genetic differences between grade I and grade III tumors. Significantly, we found that 65% of grade I tumors lost the long arm of chromosome 16 compared with only 16% of grade III tumors. This pattern of loss leads us to conclude that the majority of grade I tumors do not progress to grade III tumors. These findings have important implications because they suggest that different breast tumor grades may have distinct molecular origins, pathogenesis, and behavior and, therefore, potentially present distinct molecular targets for research and treatment. (+info)A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment. (7/861)
Lipopolysaccharide (LPS) is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor alpha (TNF-alpha) and other inflammatory mediators. Given the deleterious effects to the host of TNF-alpha, it has been postulated that TNF-alpha gene expression must be tightly regulated. The nature of the nuclear factor(s) that control TNF-alpha gene transcription in humans remains obscure, although NF-kappaB has been suggested. Our previous studies pertaining to macrophage response to LPS identified a novel DNA-binding domain located from -550 to -487 in the human TNF-alpha promoter that contains transcriptional activity, but lacks any known NF-kappaB-binding sites. We have used this DNA fragment to isolate and purify a 60-kDa protein binding to this fragment and obtained its amino-terminal sequence, which was used to design degenerate probes to screen a cDNA library from THP-1 cells. A novel cDNA clone (1.8 kb) was isolated and fully sequenced. Characterization of this cDNA clone revealed that its induction was dependent on LPS activation of THP-1 cells; hence, the name LPS-induced TNF-alpha factor (LITAF). Inhibition of LITAF mRNA expression in THP-1 cells resulted in a reduction of TNF-alpha transcripts. In addition, high level of expression of LITAF mRNA was observed predominantly in the placenta, peripheral blood leukocytes, lymph nodes, and the spleen. Finally, chromosomal localization using fluorescence in situ hybridization revealed that LITAF mapped to chromosome 16p12-16p13.3. Together, these findings suggest that LITAF plays an important role in the activation of the human TNF-alpha gene and proposes a new mechanism to control TNF-alpha gene expression. (+info)An analysis of common isodisomic regions in five mUPD 16 probands. (8/861)
Intrauterine growth retardation (IUGR) with or without additional abnormalities is recognised as a common feature of maternal uniparental disomy for chromosome 16 (mUPD 16) and is usually associated with confined placental mosaicism (CPM). Although it is likely that the CPM largely contributes to the IUGR, postnatal growth retardation and other common abnormalities may also be attributed to the mUPD. Five cases with mUPD 16 and CPM were analysed for common regions of isodisomy using polymorphic markers distributed along the length of the chromosome. In each case the aberration was consistent with a maternal meiosis I error. Complete isodisomy was not detected in any of the patients although two patients were found to be mixed with both iso- and heterodisomy. Interestingly, the patient with the greater region of isodisomy was the most severely affected. The fact that there were no common regions of isodisomy in any of the patients supports the hypothesis that imprinted genes, rather than recessive mutations, may play a role in the shared phenotypes. (+info)
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HOXD8
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
Saint Barnabas Medical Center
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... 2009 First Paired Kidney Exchange in New Jersey Performed, Family Health Magazine, Spring/Summer 2006 - accessed July 11, 2009 ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... The division performed the first paired kidney exchange in New Jersey at Saint Barnabas Medical Center in 2005. Over time, it ...
Chloroplast DNA
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long.[4][7][8] They can have a contour length of ...
PAX8
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
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 ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
Coffin-Lowry syndrome
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 ... In 2002, Helen Fryssira and RJ Simensen identified a 3 base pair deletion in the gene encoding RSK2, which was the first report ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ...
Inbreeding
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
Fluorescence in situ hybridization
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
PSEN1
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
RAD51
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
Lyudmila Trut
These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes.[10] ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ...
Archaea
... usually have a single circular chromosome,[129] with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ...
Chromosome 16
Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243-54. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 16 in resolution 850 bphs[18] Chr. Arm[19] Band[20] ISCN. start[21] ISCN. stop[21] Basepair. start ... Wikimedia Commons has media related to Human chromosome 16.. *. National Institutes of Health. "Chromosome 16". Genetics Home ...
Histone
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...
Mexican wolf
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes.[11] This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
分子演化 - 维基百科,自由的百科全书
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級,即使降低個體的適應度,自私DNA仍然可以演化,造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者(meiotic drivers)、殺手X染色體(killer X chromosomes)、自私粒線體(
Embryology
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
MSH4, a enciclopedia libre
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
Myc
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... Guilhot S, Petridou B, Syed-Hussain S, Galibert F (1989). "Nucleotide sequence 3' to the human c-myc oncogene; presence of a ...
Igbo people
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
Haplogroup Q-M242
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
Jewish diaspora
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. ... "American Journal of Human Genetics. 86 (6): 850-9. doi:10.1016/j.ajhg.2010.04.015. PMC 3032072. PMID 20560205.. ... "European Journal of Human Genetics. 15 (4): 498-500. doi:10.1038/sj.ejhg.5201764. PMID 17245410.. ...
Epigenetics of neurodegenerative diseases
SMN1 is located in a telomeric region of human chromosome 5 and also contains SMN2 in a centromeric region. SMN1 and SMN2 are ... This single base pair change leads to only 10-20% of SMN2 transcripts resulting in fully functional SMN protein and 80-90% of ... European Journal of Human Genetics : EJHG. 21 (6): 643-52. doi:10.1038/ejhg.2012.222. PMC 3658191. PMID 23073311.. ... American Journal of Human Genetics. 85 (3): 408-13. doi:10.1016/j.ajhg.2009.08.002. PMC 2771537. PMID 19716110.. ...
PRNP
... arm of chromosome 20 between the end (terminus) of the arm and position 12, from base pair 4,615,068 to base pair 4,630,233. ... of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human ... "Assignment of the human and mouse prion protein genes to homologous chromosomes". Proc. Natl. Acad. Sci. U.S.A. 83 (19): 7358- ... thought to be due to human ingestion of diseased individuals, and vCJD, thought to be due to human ingestion of BSE-tainted ...
Sibling
They gathered subjects with a mean age of 59, who included 99 pairs of identical twins, and 229 pairs of fraternal twins who ... "Human Intelligence.. *^ a b c Alan, E.S. (2012). "Issues in Birth Order Research Methodology: Perspectives from Individual ... This is very rare and is due to there being a smaller possibility of inheriting the same chromosomes from the shared parent. ... They also gathered twins who were reared together: 160 pairs of identical twins, and 212 pairs of fraternal twins. They studied ...
Streptococcus pneumoniae
They are usually found in pairs (diplococci) and do not form spores and are nonmotile.[2] As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
Haplodiploidy
Therefore, the sperms are not identical, because in each chromosome of a pair there will be different alleles at many of the ... Y chromosome. References[edit]. *^ King, R.C; Stansfield, W.D.; Mulligan, P.K. (2006). A dictionary of genetics (7th ed.). ... As long as a female has mated with only one male, all her daughters share a complete set of chromosomes from that male. In ... but when it comes to sex chromosomes, females will receive two X chromosomes while males will receive only a single X ...
پیرووات دهیدروژناز (لیپوآمید) آلفا ۱ - ویکیپدیا، دانشنامهٔ آزاد
Brown RM, Dahl HH, Brown GK (Feb 1989). "X-chromosome localization of the functional gene for the E1 alpha subunit of the human ... Hansen LL, Horn N, Dahl HH, Kruse TA (Jun 1994). "Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... De Meirleir L, Lissens W, Vamos E, Liebaers I (Mar 1992). "Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair ...
Matrilineality
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ...
Epigenetics
Some human disorders are associated with genomic imprinting, a phenomenon in mammals where the father and mother contribute ... Methylation of cytosines can also persist from the germ line of one of the parents into the zygote, marking the chromosome as ... 5-Methylcytosine performs much like a regular cytosine, pairing with a guanine in double-stranded DNA. However, some areas of ... Dizygotic (fraternal) and monozygotic (identical) twins show evidence of epigenetic influence in humans.[120][121][122] DNA ...
Chromosomes, Human, Pair 16 | Profiles RNS
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 16" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Chromosomes, Human, Pair 16" by people in this website by year ... Below are the most recent publications written about "Chromosomes, Human, Pair 16" by people in Profiles. ...
Chromosome 16 - Wikipedia
Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243-54. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 16 in resolution 850 bphs[18] Chr. Arm[19] Band[20] ISCN. start[21] ISCN. stop[21] Basepair. start ... Wikimedia Commons has media related to Human chromosome 16.. *. National Institutes of Health. "Chromosome 16". Genetics Home ...
Chromosome arm 16q in Wilms tumors: unbalanced chromosomal translocations, loss of heterozygosity, and assessment of the CTCF...
CTCF protein binds to DNA upstream of the H19 gene on chromosome band 11p15, and maintains … ... Chromosome arm 16q is a common site of loss of heterozygosity (LOH) in Wilms tumors (WTs). The mechanism and consequences of ... Chromosome Mapping * Chromosomes, Human, Pair 16 / genetics* * DNA Mutational Analysis / methods * DNA-Binding Proteins / ... Chromosome arm 16q is a common site of loss of heterozygosity (LOH) in Wilms tumors (WTs). The mechanism and consequences of ...
Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16
Trisomy 16 is the most common trisomy in spontaneous abortions and is usually, if not always, lethal in the nonmosaic state. We ... report a liveborn infant with trisomy 16 mosaicism first diagnosed by amniocentesis at 20 weeks gestation. At birth, the infant ... Chromosome Aberrations* * Chromosomes, Human, Pair 16* * DNA / analysis * Female * Humans * Infant, Newborn ... maternal heterodisomy for chromosome 16 Clin Genet. 1993 Oct;44(4):185-9. doi: 10.1111/j.1399-0004.1993.tb03876.x. ...
Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q
Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies ... publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome ... Chromosomes, Human, Pair 16 / genetics* * Contig Mapping * Databases, Factual * Expressed Sequence Tags ... Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q Genomics. 1999 Sep 15;60(3): ...
Y-chromosome Adam Archives | Evolution News
Does Barcoding DNA Reveal a Single Human Ancestral Pair?. I dont think the study can claim all the things it does based on the ... in which they claim that there never was an original pair of humans like Adam and Eve. ... On Prejudiced Models and Human Origins. Recently Dennis Venema joined with Scot McKnight to publish a book, Adam and the Genome ... Mitochondrial Eve and Y-Chromosome Adam, and Adam and the Genome. Both evolutionists and Darwin-skeptics believe that all ...
Chromosome 16: MedlinePlus Genetics
... base pairs) and represents almost 3 percent of the total DNA in cells. Learn about health implications of genetic changes. ... Chromosome 16 spans more than 90 million DNA building blocks ( ... Ensembl Human Map View: Chromosome 16. *Gilbert F. Disease ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from ... The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. Citation on PubMed ...
Chromosome Analysis Goes High Tech | The Scientist Magazine®
For these reasons, it wasnt until 1956 that the correct number of 46 human chromosomes (23 pairs) was clearly demonstrated. ... when researchers began to study chromosomes, the analysis of human chromosomes has presented a particularly tough technological ... the strands of human genetic material tend to bunch together maddeningly, overlapping and intertwining like so much spaghetti. ... or Giemsa dyes distinguished unequivocally only four of the 23 chromosome pairs. The chromosome pairs were then grouped crudely ...
Human chromosome 16, SEM - Stock Image C009/5639 - Science Photo Library
Humans have 23 pairs of chromosomes. This is chromosome 16, which carries between 850 and 1200 genes. Gene defects on this ... Each chromosome consists of two identical, parallel strands (chromatids, left and right), joined at an area called a centromere ... Chromosomes are a packaged form of the genetic material DNA (deoxyribonucleic acid), and form during cell replication. ... chromosome are related to diseases such as Crohns disease and thalassaemia, and may also contribute to obesity. Magnification ...
Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature.
... a rare chromosomal translocation involving chromosome 21 in de novo and therapy-related acute myeloid leukemia (AML), produces ... Chromosomes, Human, Pair 21*. Female. Humans. In Situ Hybridization, Fluorescence. Karyotyping. Leukemia, Myeloid, Acute. ... 8258304 - The human gene for nuclear protein bm28 (cdcl1), a new member of the early s-phase fami.... 15026324 - Usp6 (tre2) ... 24247464 - Genetical analysis of chromosome 5a of wheat and its influence on important agronomic c.... 14599104 - On-substrate ...
The t(6;9)(p22;q34) in myeloid neoplasms: a retrospective study of 16 cases.
We report 16 patients with the t(6;9), of whom 13 had AML, 2 had myelodysplastic syndrome (MDS), and 1 had chronic myeloid leuk ... Chromosomes, Human, Pair 6*. Chromosomes, Human, Pair 9*. Female. Hematopoietic Stem Cell Transplantation. Humans. Karyotyping ... Next Document: Three rearrangements of chromosome 5 in a patient with myelodysplastic syndrome: an atypical deletio.... ... We report 16 patients with the t(6;9), of whom 13 had AML, 2 had myelodysplastic syndrome (MDS), and 1 had chronic myeloid ...
Chromosome 17 - Wikipedia
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 17.. The following is a partial list of genes on human chromosome 17. For complete ... "Chromosome 17". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 17". Human Genome Project Information Archive ... Human chromosome 17 pair after G-banding.. One is from mother, one is from father. ...
Chromosome 8 - Wikipedia
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... "Chromosome 8". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 8". Human Genome Project Information Archive 1990- ... The following is a partial list of genes on human chromosome 8. For complete list, see the link in the infobox on the right. ... "Human chromosome 8: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16. "Search ...
Chromosome 16 News, Research
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from ... Chromosome 16 spans about 89 million base pairs (the building blocks of DNA) and represents almost 3 percent of the total DNA ... Chromosome 16 likely contains between 850 and 1,200 genes.. Genes on chromosome 16 are among the estimated 20,000 to 25,000 ... Scientists have identified a pair of treatments that may restore brain function to autism patients who lack a gene critical to ...
topic:"Chromosomes, Human, Pair 9 - genetics" found 36 records • Arctic Health
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
Appendix E: Glossary | Human Genome Editing: Science, Ethics, and Governance | The National Academies Press
In humans, diploid cells contain 46 chromosomes (in 23 pairs).. Divergence (evolutionary)-During evolution, variations occur in ... The DNA within the complete cellular set of chromosomes (23 pairs in humans) comprises two copies of the genome, one from each ... 23 in humans). In contrast, body cells (somatic cells) are diploid, having two sets of chromosomes (46 in humans) (adapted from ... Human Genome Editing considers important questions about the human application of genome editing including: balancing potential ...
Genes & Chromosomes [M.Tevfik Dorak]
Sex chromosomes X and Y are the 23rd pair in humans. There are two Xs in females but only a single X in males, whereas the ... Chromosomes differ in their sizes. The smallest human chromosome is chromosome 21 (50 Mb) and the largest one is chromosome 1 ( ... Despite morphological dissimilarity, human sex chromosomes pair also in male meiosis and a single obligatory recombination ... Number of chromosome pairs: humans 23; gorilla 24; cattle 30; dog 39; mouse 20; goldfish 47; tobacco plants 24; peas 7; ...
X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells | PNAS
We first examined XIST expression by quantitative RT-PCR using primer pairs that detect XIST-specific splice patterns. HUES1, ... 2002) An ectopic human XIST gene can induce chromosome inactivation in postdifferentiation human HT-1080 cells. Proc Natl Acad ... X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells. Susana S. Silva, Rebecca K. Rowntree, Shila ... X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells. Susana S. Silva, Rebecca K. Rowntree, Shila ...
Chromosome 16 - Genetics Home Reference
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from ... Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 16. Genet Test. 1999;3(2):243-54. ... The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. (PDF) ... The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. ...
Protein kinase profiling in miscarriage: implications for the pathogenesis of trisomic pregnancy. | CureHunter
Chromosomes, Human, Pair 15 (genetics) *Chromosomes, Human, Pair 16 (genetics) *Female. *Gene Amplification ... This supports a role for chromosome-specific effects in the pathogenesis of trisomy (gene dosage hypothesis). In addition, both ... including dosage-dependent over-expression of the chromosome 16-encoded ERK1 in trisomy 16. ... Trisomy in pregnancy increases risks of miscarriage, fetal anomalies, and perinatal complications, with trisomy 16 the most ...
Six Quirks of the Human Genome by Dan Koboldt : Clarkesworld Magazine - Science Fiction & Fantasy
This page: Six Quirks of the Human Genome by Dan Koboldt ... we typically refer to the 23 pairs of chromosomes: 1-22, X, and ... The human genome comprises 3.2 billion base pairs spread across 24 distinct chromosomes. In 1990, as the Human Genome Project ... The mitochondrial chromosome. The human mitochondrial genome is around 37,500 base pairs long and contains 37 protein-coding ... Human endogenous retroviruses, or "fossil viruses," make up about 1% of our 3.2 billion base pairs. And many of them are active ...
B3 Flashcards by Erin Calder | Brainscape
How many pairs of chromosomes does the human body have in its cells ... In a parent cell with two chromosomes, each chromosome replicates itself. the chromosomes line up along the centre of the cell ... 3-The effect of cloning on a humans mental and emotional development isnt known.. 4-Religious views say that cloning humans ... To produce a required substance: e.g. the gene for human insulin can be inserted into bacteria to make insulin on a large scale ...
mitochondrial DNA - Everything2.com
... the vast majority of it is in chromosomes in the nucleus; but a small amount is in each mitochondrio... ... base pair. multiregional. Nuclear Detonation Sensors. chromosome. antigen. cell. genome. Human Genome Project. DNA. Carolina ... There are two places in a cell where DNA is stored: the vast majority of it is in chromosomes in the nucleus; but a small ... Humans have 37 genes in their mitochondria, in a total of only 16 569 base pairs. Compare this to the genome in the chromosomes ...
PLOS Genetics: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line
Each orange line represents a single mate-pair as a link between one end of a read and its mate-pair. Between the breakpoints ... The outer ring represents the chromosomes displaying tick marks every 100 bases. The green plot shows base-coverage for each ... U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line. Figure 6. Reads spanning ... This suggests an interchromosomal translocation between chromosomes 2 and 16 resulting in a loss of the genomic material ...
Brunel University Research Archive: Search
1 *Chromosomes, Human, Pair 16. *1 *Gene Silencing. *1 3T3 Cells. *1 Breast Neoplasms/blood/genetics ... Human chromosome 16 suppresses metastasis but not tumorigenesis in rat prostatic tumor cells. Mashimo, T; Watabe, M; Cuthbert, ... Human acrocentric chromosomes with transcriptionally silent nucleolar organizer regions associate with nucleoli. Sullivan, GJ; ...
Bio Study Guide Cell Theory and Membranes Essay | Major Tests
3. A human cell contains twenty-three pairs of autosomal chromosomes. 4. A human cell contains two sex chromosomes. 5. The ... 2. Nondisjunction is the failure of chromosome pairs or sister chromatids to separate properly during cell division. An example ... Jocelyn Hochsztein 4/28/14 P.2 E.O.C Exam Study Guide 1. A chromosomal disorder is a chromosome anomaly, abnormality, or ...
Genomics in Action: Kyungjae Myung, Ph.D. - National Human Genome Research Institute (NHGRI)
He hopes to use ELG1, which naturally marks damaged regions of DNA, to zoom in on the sites on each human chromosome that are ... often affecting just one or two of the approximately three billion base pairs in the human genome. At NHGRI, Dr. Myung focuses ... But in one of the cells is a glowing green chunk- part of a chromosome. "That could be a broken piece of chromosome, a type of ... Exploring genomes - frequently human, but often mouse and yeast genomes as well - fills his day as a National Human Genome ...
The Rockefeller University » Pairing and Patterning Between Meiotic Chromosomes
Effective chromosome pairing requires chromatin remodeling at the onset of meiosis | PNAS
... preventing nonhomologous synapsis of chromosomes, but also has effects at replication (7, 25). Overexpression of Cdk2 in humans ... and the chromosomes can pair. In a wheat-rye hybrid carrying seven rye chromosomes (d), the rye heterochromatin does not ... the translocated chromosome behaves like the rest of the wheat chromosomes. In fact, initially this regular pairing led some ... Effective chromosome pairing requires chromatin remodeling at the onset of meiosis. Isabelle Colas, Peter Shaw, Pilar Prieto, ...
GeneticsChromosomalBase pairsHomologousDiploidSequenceSegment of chromosome 16CentromereDifferent chromosomesNucleusChromatinCellsSister chromatidsYeastCopiesMeiosis2020Represents the chromosomesTrisomy 16 mosaicismKaryotypeSpeciesMalesProteinsMutationsReplication1998OrganismsRegion of chromosomeNCBIDuplicationsIndividual chromosomesAcrocentric chromosomesDuplicationSomaticMeioticAutosomal chromosomeMetaphaseStructuresCellSaccharomycesFemalesDisordersAutosomesAbnormalitiesSequencesEukaryotic chromosomeGenetic materialGroup chromosomeRearrangementHaploidLocus on chromosomeScientistsGenes in the human genomeAmniocentesisTranscriptionally silentDeletion syndromeMeSH
Genetics7
- Human Molecular Genetics. (wikipedia.org)
- One of the best parts about working as a genetics researcher is that the human genome continues to surprise us in new and puzzling ways. (clarkesworldmagazine.com)
- Exploring genomes - frequently human, but often mouse and yeast genomes as well - fills his day as a National Human Genome Research Institute (NHGRI) investigator in the Genetics and Molecular Biology Branch and head of the Genome Instability Section. (genome.gov)
- Newswise - An international team of scientists led by Jef Boeke, PhD, director of NYU Langone Medical Center's Institute for Systems Genetics, has synthesized the first functional chromosome in yeast, an important step in the emerging field of synthetic biology, designing microorganisms to produce novel medicines, raw materials for food, and biofuels. (newswise.com)
- Respondent Myriad Genetics, Inc. (Myriad), discovered the precise location and [2111] sequence of two human genes, mutations of which can substantially increase the risks of breast and ovarian cancer. (harvard.edu)
- Ambry Genetics was one of the first companies to announce that it would provide genetic diagnostic testing for the BRCA 1 and BRCA 2 genes on the day the U.S. Supreme Court announced its decision in AMP v. Myriad Genetics on the question of "whether human genes are patentable. (jdsupra.com)
- Using yeast genetics and a novel scheme to selectively remove a single protein from the cell division process called meiosis, a cell biologist at The Florida State University has found that when a key molecular player known as Pds5 goes missing, chromosomes fail to segregate and pair up properly. (fsu.edu)
Chromosomal17
- In our series, unbalanced t(1;16) chromosomal translocations were a major pathway for Chr16 loss of heterozygosity, and this LOH was correlated significantly with tumor anaplasia. (nih.gov)
- The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 16. (medlineplus.gov)
- People with this chromosomal abnormality are missing a sequence of about 520,000 base pairs, also written as 520 kb, at position p12.2 on chromosome 16. (medlineplus.gov)
- The t(16;21)(q24;q22), a rare chromosomal translocation involving chromosome 21 in de novo and therapy-related acute myeloid leukemia (AML), produces a RUNX1-CBFA2T3 fusion gene (previously AML1-MTG16) fusion gene. (biomedsearch.com)
- Key points about meiosis: it halves the number of chromosomes per cell and it gives rise to new gene combinations (via crossing-over within the chromosomes and chromosomal re-assortment). (tripod.com)
- The chromosomes are divided and both parents contribute to their offspring's chromosomal DNA (in those species which reproduce sexually, which is almost all). (everything2.com)
- A chromosomal disorder is a chromosome anomaly, abnormality, or aberration is a missing, extra, or irregular portion of chromosomal DNA. (majortests.com)
- Ring chromosome 4 is a rare disorder that is typically characterized by loss (deletion) of genetic material from both ends of the 4th chromosome and joining of the chromosomal ends to form a ring. (rarediseases.org)
- In addition, certain features may be similar to those seen in individuals with Wolf-Hirschhorn syndrome, which is a chromosomal disorder characterized by partial deletion (monosomy) of the short arm (p) of chromosome 4 (partial monosomy 4p) or features similar to those seen in individuals with partial deletion (monosomy) of the long arm (q) of chromosome 4 (partial monosomy 4q. (rarediseases.org)
- The following chromosomal conditions are associated with chromosome 16. (verywellhealth.com)
- Unfortunately, this also makes trisomy 16 the most common chromosomal cause of miscarriages as the condition is not compatible with life. (verywellhealth.com)
- Molecular cloning of the alpha subunit of human and guinea pig leukocyte adhesion glycoprotein Mo1: chromosomal localization and homology to the alpha subunits of integrins. (elsevier.com)
- Yeast shares roughly a third of its 6,000 genes functional units of chromosomal DNA for encoding proteins with humans. (nanowerk.com)
- Such failures in yeast result in sterility, and in humans, related errors can result in chromosomal mutations and birth defects such as Down syndrome. (fsu.edu)
- The study shines new light on the protein Pds5, its crucial regulatory role during meiosis, and the impact of its absence on the molecular-level genesis of human chromosomal birth defects that include Down, Edwards, Patau, Turner, Klinefelter's and XYY syndromes. (fsu.edu)
- This finding is highly important, because failure to generate a crossover between homologs leads to chromosome missegregation and can cause human chromosomal birth defects such as Down syndrome, which affects about one in 800 newborns in the United States. (fsu.edu)
- This information promises to revolutionize the processes of finding chromosomal locations for disease-associated sequences and tracing human history. (edinformatics.com)
Base pairs26
- Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cells . (wikipedia.org)
- 16p11.2 deletion syndrome is caused by a deletion of about 600,000 base pairs, also written as 600 kilobases (kb), at position 11.2 on the short (p) arm of chromosome 16. (medlineplus.gov)
- Chromosome 17 spans more than 83 million base pairs (the building material of DNA ) and represents between 2.5 and 3% of the total DNA in cells . (wikipedia.org)
- Chromosome 16 spans about 89 million base pairs (the building blocks of DNA) and represents almost 3 percent of the total DNA in cells. (news-medical.net)
- Physical (kbp, Mbp) distance is the number of base pairs between two loci but genomic distance (cM) is the recombination fraction between two loci. (tripod.com)
- Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells. (wikipedia.org)
- The human genome comprises 3.2 billion base pairs spread across 24 distinct chromosomes. (clarkesworldmagazine.com)
- Human endogenous retroviruses, or "fossil viruses," make up about 1% of our 3.2 billion base pairs. (clarkesworldmagazine.com)
- Ultraviolet radiation inflicts fairly minor changes to DNA, often affecting just one or two of the approximately three billion base pairs in the human genome. (genome.gov)
- The yeast genome contains just over 12 million base pairs of DNA packaged within 16 chromosomes. (genome.gov)
- How many base pairs are contained within each nucleosome? (brainscape.com)
- The potato genome has 12 chromosomes with 840 million base pairs, about a quarter the size of the human genome. (ecnmag.com)
- TAAAA)(n) is five base pairs that repeats a variable number of times on the opposite DNA strand. (wikipedia.org)
- The seven-year effort to construct synIII tied together some 273, 871 base pairs of DNA, shorter than its native yeast counterpart, which has 316,667 base pairs. (newswise.com)
- Dr. Boeke and his team made more than 500 alterations to its genetic base, removing repeating sections of some 47,841 DNA base pairs, deemed unnecessary to chromosome reproduction and growth. (newswise.com)
- Also removed was what is popularly termed junk DNA, including base pairs known not to encode for any particular proteins, and "jumping gene" segments known to randomly move around and introduce mutations. (newswise.com)
- Other sets of base pairs were added or altered to enable researchers to tag DNA as synthetic or native, and to delete or move genes on synIII. (newswise.com)
- The students pieced together short snippets of the synthetic DNA into stretches of 750 to 1,000 base pairs or more, an effort led by Srinivasan Chandrasegaran, PhD, a professor at Johns Hopkins. (newswise.com)
- DNA comprises four letter-designated base macromolecules strung together in matching sets, or base pairs, in a pattern of repeating letters. (newswise.com)
- When stacked, these base pairs form a helical structure of DNA resembling a twisted ladder. (newswise.com)
- The scientists report that bread wheat contains an estimated 16 billion base pairs of DNA and six copies of seven chromosomes. (rssl.com)
- They compare this to the human genome which is about five times smaller, with about three billion base pairs and two copies of 23 chromosomes. (rssl.com)
- While welcomed by some in the science community, there was considerable debate following this recommendation about whether the available technology for sequencing was either fast enough, or cheap enough for the ambitious goals of sequencing the three billion base pairs that make up the human genome. (theconversation.com)
- In 2000, Grimwood was a senior scientist at the Stanford Human Genome Center where she and her group were responsible for finishing and performing quality analysis on the 320 million base pairs of human chromosomes 5, 16 and 19, comprising more than 10 percent of the human genome. (hudsonalpha.org)
- The haploid human genome occupies a total of just over 3 billion DNA base pairs that means 6 billion base pairs per diploid cell. (edinformatics.com)
- Dr Boeke and his colleagues have taken advantage of the falling price of DNA synthesis, and an army of willing undergraduates who did the grunt work, to make a molecule more than 270,000 base pairs (genetic "letters") long. (economist.com)
Homologous11
- This is different from the pair of homologous chromosomes, which represents the chromosomes inherited from the father and the mother. (tripod.com)
- Mendel's first principle, segregation , is the direct result of the separation of homologous chromosomes during anaphase I of meiosis. (tripod.com)
- Mendel's second principle, independent assortment , occurs because each pair of homologous chromosomes line up at the metaphase plate in meiosis I independently of all other pairs of homologous chromosomes. (tripod.com)
- During meiosis, homologous chromosomes (homologues) recognize each other and then intimately associate. (pnas.org)
- Any cell with homologous chromosomes is said to be diploid. (autismpluggedin.com)
- This cbfb is highly homologous to human and mouse CBFB/Cbfb genes at both the DNA and protein level. (zfin.org)
- Meiotic recombination generates crossovers between homologous chromosomes that are essential for genome haploidization. (nature.com)
- Homologous chromosomes become tethered together through numerous recombination events between homologous non-sister chromatids, which are triggered by double-strand break induction. (nature.com)
- The SC is a proteinaceous structure that holds homologous chromosome pairs in synapsis during prophase I, from zygonema to pachynema. (nature.com)
- The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same. (creationwiki.org)
- Hence, gametes are said to be haploid-having only a single set of homologous chromosomes. (creationwiki.org)
Diploid16
- In C.elegans (a nematode), the sexes differ in their chromosome numbers: the male is haploid for the sex chromosome (X,O) and the female is diploid (X,X) resulting in a total of 11 diploid chromosomes in males and 12 in females. (tripod.com)
- Haploid ( n ) number is the number of chromosomes in germ cells (23 in humans), diploid (2 n ) number is the number of chromosomes in somatic cells (46 in humans). (tripod.com)
- In this form, eggs produced by females are diploid (they carry the full complement of chromosomes) and develop into females that are genetic clones of their mothers. (dave-cushman.net)
- If a tiger has 38 chromosomes in a diploid body cell, how many chromosomes are in a tiger's haploid egg cell? (autismpluggedin.com)
- Humans have 46 chromosomes in each diploid cell. (autismpluggedin.com)
- The total number of chromosomes in diploid cells is described as 2n, which is twice the number of chromosomes in a haploid cell (n). (autismpluggedin.com)
- Humans are diploid and have n=23 (23 different chromosomes), for 2n=46, except for gametes (sex cells) of course. (autismpluggedin.com)
- In a diploid organism with 10 pairs of. (autismpluggedin.com)
- 2n = 16 mean diploid . (autismpluggedin.com)
- Are humans haploid or diploid? (autismpluggedin.com)
- The diploid number of a cell is commonly abbreviated to 2n, where n is the number of chromosomes. (autismpluggedin.com)
- Normal human diploid cells placed in culture have a finite proliferative life-span and enter a nondividing state termed senescence, which is characterized by altered gene expression ( 1 , 2 ). (sciencemag.org)
- We recently demonstrated that telomerase activity can be reconstituted by transient expression of hTRT in normal human diploid cells, which express low levels of the template RNA component of telomerase (hTR) but do not express hTRT ( 18 ). (sciencemag.org)
- During meiosis, two successive rounds of chromosome segregation occur following a single round of replication, resulting in the formation of haploid gametes from diploid progenitors 1 . (nature.com)
- The maturation of germ line stem cells into gametes requires that the diploid number of each chromosome be reduced by half. (creationwiki.org)
- This reduction is accomplished through a process called meiosis , where one chromosome in a diploid pair is sent to each daughter gamete. (creationwiki.org)
Sequence19
- Several publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome sequence by the year 2005. (nih.gov)
- Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. (nih.gov)
- 2004). "The sequence and analysis of duplication-rich human chromosome 16" (PDF). (wikipedia.org)
- The structure of an integrated retrovirus is somewhat distinctive, and when we finished the sequence of the human genome, we noticed thousands of them already in it. (clarkesworldmagazine.com)
- The Fugu fish sequence, in combination with the draft mouse genome, to be available in early 2001, will greatly add to the comparative sequence studies that are now required to isolate coding and non-coding conserved elements within the human genome," Watson said in a statement. (genomeweb.com)
- He and his team want to use the Y chromosome sequence from an actual person's genome: mine. (wired.com)
- The sequence of a 378-base-pair insert from one immunoreactive clone revealed a single continuous open reading frame encoding 126 amino acids including a 26-amino acid tryptic peptide isolated from the purified guinea pig alpha subunit. (elsevier.com)
- The human clone also encoded a 126-amino acid peptide including the sequence of an additional tryptic peptide present in purified human Mo1 alpha chain. (elsevier.com)
- As part of the ongoing Candida albicans Genome Project, we have constructed a complete sequence-tagged site contig map of chromosome 7 , using a library of 3840 clones made in fosmids to promote the stability of repeated DNA. (genetics.org)
- The repeated sequence CARE2/Rel2 is a subtelomeric repeat on chromosome 7 and possibly on the other chromosomes as well. (genetics.org)
- Claim 16: A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chin reaction, the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA having all or part of the sequence of the BRCA1 gene. (jdsupra.com)
- Claim 17: The pair of primers of claim 16 wherein said BRCA1 gene has the nucleotide sequence set forth in SEQ ID NO:1. (jdsupra.com)
- A pair of single-stranded DNA primers of at least 15 nucleotides in length for determination of the nucleotide sequence of a BRCA2 gene by a polymerase chain reaction, the sequence of said primers being isolated from human chromosome 13, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA comprising all or at least 15 contiguous nucleotides of the BRCA2 gene. (jdsupra.com)
- Schmutz and his group finished and assembled the human sequence of chromosomes 5, 16 and 19 for the public Human Genome Project. (hudsonalpha.org)
- He also led the quality assessment of the human genome sequence that evaluated the accuracy and completeness of the final human genome sequence. (hudsonalpha.org)
- By discovering the particular locations and sequences of the genes, Myriad was able to determine the typical sequences of the genes most often found in humans (i.e., the "wild-type" sequence for each), as well as mutations, which depart from the two wild-type sequences. (findlaw.com)
- However, a region clearly related to exon 2 was identified in humans from its strong sequence homology to expressed exon 2 in other species. (mad-cow.org)
- Human exon 2 shows no sign of rapid change [loss of selective pressure]: the sequence changes orders of magnitude more slowly than [unselected] pseudogenes. (mad-cow.org)
- The completed human sequence can now identify their locations. (edinformatics.com)
Segment of chromosome 162
- A 16p11.2 duplication is an extra copy of the same 600 kb segment of chromosome 16 that is missing in 16p11.2 deletion syndrome (described above). (medlineplus.gov)
- Using these methods we have localized the PKD1 gene, mutated in the majority of PKD1 families, to a small (500 kb) segment of chromosome 16, band p13.3. (elsevier.com)
Centromere5
- But still, the chromosome pairs could not be distinguished very well, and researchers had to rely on such large-scale and subjective clues as chromosome size and position of the J centromere, a characteristically located constriction in each chromosome. (the-scientist.com)
- Each chromosome consists of two identical, parallel strands (chromatids, left and right), joined at an area called a centromere (centre). (sciencephoto.com)
- The point the two sister chromatids join together is called centromere, and the ends of chromosomes are called telomere. (tripod.com)
- This ploidy reduction is achieved through a series of meiosis-specific events, including pairing, synapsis, crossover formation between homologues, suppression of sister centromere separation during the first (reductional) division and separation of sister chromatids during the second (equational) division. (nature.com)
- FISH probes revealed that in all cases, save the Hulk, the γ-chromosome was associated with the centromere of the X-chromosome. (ubc.ca)
Different chromosomes1
- Huebner K, Druck T, Croce CM, Thiesen HJ (1991) Twenty seven non overlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering. (springer.com)
Nucleus8
- The chromosomes usually reside in the nucleus of a cell, except during cell division when the nuclear membrane breaks down and the chromosomes become condensed and can be visualized as discrete entities. (nap.edu)
- Chromosomes are usually (in the interphase) dispersed throughout the nucleus but become compacted during metaphase of cell division. (tripod.com)
- At the start of meiosis, each chromosome must recognize its homologue from among all of the chromosomes present in the nucleus. (pnas.org)
- Chromosomes are located in the nucleus of each cell containing the DNA comprising genes. (autismpluggedin.com)
- Chromosomes are found in the nucleus of all body cells. (rarediseases.org)
- A cell's nucleus contains chromosomes, which are long, coiled packaged and organized chromatin (molecules of DNA). (avroarrow.org)
- Over the last five years, scientists have built bacterial chromosomes and viral DNA, but this is the first report of an entire eukaryotic chromosome, the threadlike structure that carries genes in the nucleus of all plant and animal cells, built from scratch. (newswise.com)
- DNA is always present in the cell nucleus in the form of the 46 chromosomes. (physicsforums.com)
Chromatin9
- Chromatin- The complex of DNA and proteins that forms chromosomes. (nap.edu)
- Studies exploiting species with large chromosomes reveal that chromatin is remodeled at the onset of meiosis before this intimate association. (pnas.org)
- Thus, chromatin remodeling at the onset of meiosis enables the chromosomes to become competent to pair and recombine efficiently. (pnas.org)
- Meiotic studies of species with large chromosomes reveal that chromosomes undergo extensive chromatin remodeling at the onset of meiosis ( 2 , 3 ). (pnas.org)
- However, neither these studies nor any other investigations of meiosis reveal whether chromatin remodeling is essential for chromosome pairing and recombination. (pnas.org)
- Recently, cell biological investigations have revealed that one of the effects of a major chromosome pairing locus ( Ph1 ) on chromosome 5B in wheat is to control chromatin remodeling at the onset of meiosis. (pnas.org)
- At the onset of meiosis, homologues undergo synchronized chromatin remodeling in the presence of Ph1 , when the telomeres cluster as a bouquet and engage in intimate pairing ( 7 ). (pnas.org)
- Within the chromosomes, chromatin proteins such as histones compact and organize DNA, which helps control its interactions with other proteins and thereby control which genes are transcribed. (newworldencyclopedia.org)
- 6. In what stage does chromatin condense down to form a chromosome? (prezi.com)
Cells39
- Pure trisomy 16 was found in cells from the placenta. (nih.gov)
- Skin fibroblasts revealed a trisomy 16 karyotype in 6 of 30 cells. (nih.gov)
- Researchers learned to treat cells with a hypotonic solution to swell them, spreading apart the tangle of chromosomes. (the-scientist.com)
- The findings could lead to answers to questions concerning the mechanisms leading to birth defects and chromosome instability in cancer cells. (news-medical.net)
- Blastocyst- A preimplantation embryo in placental mammals (about 5 days after fertilization in humans) of 50-150 cells. (nap.edu)
- With the potential to give rise to all somatic cell types, human embryonic stem cells (hESC) have generated enormous interest as agents of cell replacement therapy. (pnas.org)
- Human embryonic stem cells (hESCs) ( 1 ) can be maintained in culture in a self-renewing state and differentiate into all three embryonic germ layers ( 2 ). (pnas.org)
- On a grainy, gray backdrop, he points out the dark gray ovals marking the boundaries of three human cells. (genome.gov)
- Within cells, DNA is organized into structures called chromosomes . (newworldencyclopedia.org)
- These chromosomes are duplicated before cells divide, in a process called DNA replication. (newworldencyclopedia.org)
- a pair of each chromosome), twice the haploid (1n) number found in the sex cells, or gametes. (autismpluggedin.com)
- Cells for which 2n=6 have 6 total chromosomes (3 paired) . (autismpluggedin.com)
- Hence, an organism with cells 2n=6 would be an organism that has only 6 chromosomes, or 3 pairs. (autismpluggedin.com)
- In humans, gametes are haploid cells that contain 23 chromosomes, each of which a one of a chromosome pair that exists in diplod cells. (autismpluggedin.com)
- By replacing select nucleo-tides-the ACGTs of life, which are scattered throughout the chromosomes-and changing, say, a T to an A or a C to a G in a process called recoding, Church envisions being able to make cells resistant to viruses. (wired.com)
- Church and others who are working to synthesize human DNA have created their own effort within GP-Write-the Human Genome Project-Write, or HGP-Write-and its prospects for success have biologists abuzz over the potential for treating diseases and for creating bioengineered cells and possibly even organs. (wired.com)
- Theoretically, scientists could one day manufacture genomes, human or otherwise, almost as easily as writing code on a computer, transforming digital DNA on someone's laptop into living cells of, say, Homo sapiens . (wired.com)
- Sometimes there may be three copies of chromosome 16, but not in all cells of the body (some have the normal two copies). (verywellhealth.com)
- We have shown that yeast cells carrying this synthetic chromosome are remarkably normal. (newswise.com)
- Yeast chromosome III was selected for synthesis because it is among the smallest of the 16 yeast chromosomes and controls how yeast cells mate and undergo genetic change. (newswise.com)
- Normal human reproductive cells have 23 chromosomes. (neowin.net)
- The modal chromosome number is 57 although cells with 58 chromosomes occurred with a comparable frequency. (atcc.org)
- Seven marker chromosomes, der(9)t(1;9)(q21;p24), der(9)t(7;9)(p11;p22), t(10q14q), der(16)t(7;16)(q11.23;q22), a small ring (about 1/2 the size of a G chromosome) and two others, were common to all cells. (atcc.org)
- Organisms have a way to make identical copies of their chromosomes and put them in newly formed cells - but how? (prezi.com)
- 64 chromosomes in each of its body cells. (prezi.com)
- How many chromosomes would be in the two cells after cell division takes place? (prezi.com)
- Normal human cells undergo a finite number of cell divisions and ultimately enter a nondividing state called replicative senescence. (sciencemag.org)
- To test this hypothesis, two telomerase-negative normal human cell types, retinal pigment epithelial cells and foreskin fibroblasts, were transfected with vectors encoding the human telomerase catalytic subunit. (sciencemag.org)
- The ability to maintain normal human cells in a phenotypically youthful state could have important applications in research and medicine. (sciencemag.org)
- Telomerase is active in germline cells and, in humans, telomeres in these cells are maintained at about 15 kilobase pairs (kbp). (sciencemag.org)
- The telomere hypothesis of cellular aging ( 16 ) proposes that cells become senescent when progressive telomere shortening during each division produces a threshold telomere length. (sciencemag.org)
- To duplicate all this information stored in the chromosomes and to make it usefull cells use a process we call central dogma. (prezi.com)
- Treatment of normal cells with γ-radiation caused a dissociation of the γ- from the X-chromosome. (ubc.ca)
- A pair of research teams recently linked large-scale mutations on one of the body's 23 pairs of chromosomes (which carry cells' genetic code) to autism, a finding that helps shed light on a disorder whose genetic underpinnings have confounded scientists for decades. (scientificamerican.com)
- Biologically speaking, human life begins when a cell with 23 pairs of chromosomes capable of dividing into all the separate and distinct cells that make up a human organism is created. (atlassociety.org)
- The biological basis for human life is contained in the genetic code present in human cells. (atlassociety.org)
- Every time a blastocyst-a human embryo of about 100 cells before it implants in the uterine lining-is harvested for its stem cells, it is destroyed. (atlassociety.org)
- What kind of cells would only have ½ the number of chromosomes? (powershow.com)
- Bacteria, in contrast, are prokaryotes-meaning their DNA is arranged in small, circular chromosomes which float around in more or less organelleless cells. (economist.com)
Sister chromatids5
- 2. Nondisjunction is the failure of chromosome pairs or sister chromatids to separate properly during cell division. (majortests.com)
- Pairing initiated at the ends of bent zygotene chromosomes, which displayed a complex surface structure with discernible sister chromatids. (biologists.org)
- It consists of two parallel axial elements (AEs) that bind sister chromatids together, and which become known as lateral elements (LEs) upon chromosome pairing. (nature.com)
- In addition, we found that, although sister chromatids enter meiosis in very close proximity to one another, Pds5 acts to inhibit synapsis between them, a good thing because, then, meiotic conditions support the necessary pairing of homologs. (fsu.edu)
- The Sept. 7, 2009, Journal of Cell Biology paper ('Pds5 is required for homologue pairing and inhibits synapsis of sister chromatids during yeast meiosis') was co-authored by Hui Jin, a research technician in biology at Florida State, and Vincent Guacci, a postdoctoral assistant in the Department of Embryology at the Carnegie Institution of Washington. (fsu.edu)
Yeast10
- In a second experimental effort, the yeast karyotype was recently completely engineered, by systematically fusing pairs of telomeres and deleting single centromeres, thus generating an isogenic series of yeast ranging from n=16 to n=2. (nsf.gov)
- However, another form of tormenting the genome-by switching human for yeast DNA packaging machinery-does lead to observable outcomes. (nsf.gov)
- Although genome-wide investigation and characterization of Nat catalytic subunits (CS) and auxiliary subunits (AS) have been conducted in yeast and humans they remain unexplored in plants. (mdpi.com)
- Based on phylogenetic analysis, poplar Nat CS were assigned to six subgroups, which corresponded well to the Nat CS types (CS of Nat A-F), being consistent with previous reports in humans and yeast. (mdpi.com)
- Currently, six types of Nats (NatA-F) complexes conserved from yeast to humans are responsible for these Nα-acetylation events: each of the three major Nats, NatA, NatB and NatC contain a catalytic subunit, and one or two auxiliary subunits, whereas NatD, NatE and NatF are composed of only one catalytic subunit [ 8 , 9 ]. (mdpi.com)
- In this week's issue of Science online March 27, the team reports how, using computer-aided design, they built a fully functioning chromosome, which they call synIII, and successfully incorporated it into brewer's yeast, known scientifically as Saccharomyces cerevisiae. (newswise.com)
- We have made over 50,000 changes to the DNA code in the chromosome and our yeast still live. (newswise.com)
- It shows that our synthetic chromosome is hardy, and it endows the yeast with new properties. (newswise.com)
- THE science of synthetic biology took an important step forward this week with the announcement in Science , by a team from Jef Boeke's laboratory at Johns Hopkins University, in Baltimore, of the first completely synthetic yeast chromosome. (economist.com)
- The next step is to make more yeast chromosomes-eventually creating a completely synthetic genome. (economist.com)
Copies10
- People normally have two copies of this chromosome. (wikipedia.org)
- Two copies of chromosome 16, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
- This deletion affects one of the two copies of chromosome 16 in each cell. (medlineplus.gov)
- The DNA within the complete cellular set of chromosomes (23 pairs in humans) comprises two copies of the genome, one from each parent. (nap.edu)
- Organisms exhibiting sexual reproduction carry two copies (homologues) of each chromosome. (pnas.org)
- Changes in the structure or number of copies of a chromosome can cause problems with health and development. (verywellhealth.com)
- In trisomy 16, instead of the normal pair, there are three copies of chromosome 16. (verywellhealth.com)
- Two copies of the alpha-globin gene (designated alpha-2 and alpha-1) are located on each chromosome 16. (bmj.com)
- In sexually reproducing organisms, each gene in an individual is represented by two copies, called alleles -one on each chromosome pair. (creationwiki.org)
- The following structural rearrangements were observed in 30 metaphases: an acentric fragment in 2/30 metaphases, a minute in 3/30, a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). (atcc.org)
Meiosis6
- Telomeres have important functions such as preventing end-to-end fusion of chromosomes, assisting with chromosome pairing in meiosis, and ensuring complete replication of chromosome extremities. (tripod.com)
- On entry into meiosis just before chromosome pairing, the subtelomeric heterochromatin knobs visualized on Lilium, rye, and maize chromosomes "disappear" as a result of these conformational changes ( 3 ⇓ ⇓ - 6 ). (pnas.org)
- The Ph1 locus ensures that only true homologues pair at meiosis from among the six related chromosomes ( 11 ). (pnas.org)
- It is known from mouse mutants and through human genetic analysis of families with non-obstructive azoospermia and premature ovarian failure, that alterations in these genes (that is, meiosis-specific cohesin subunit STAG3, and SYCE1) can result in meiotic arrest and human infertility 12 , 13 . (nature.com)
- During normal meiosis, the process of division that halves the number of chromosomes per cell, my colleagues and I discovered that Pds5 regulates the pairing and synapsis (joining together) of 'mom and dad' homologs. (fsu.edu)
- Now, we are investigating the other factors that interact with Pds5 during meiosis to regulate chromosome segregation and homolog synapsis,' he said. (fsu.edu)
20201
- 20009.1-16 (2020). (bioone.org)
Represents the chromosomes1
- The outer ring represents the chromosomes displaying tick marks every 100 bases. (plos.org)
Trisomy 16 mosaicism3
- We report a liveborn infant with trisomy 16 mosaicism first diagnosed by amniocentesis at 20 weeks gestation. (nih.gov)
- Fibroblasts may be the tissue of choice for detection of low-level trisomy 16 mosaicism. (nih.gov)
- There is also an increased risk of premature birth for infants with trisomy 16 mosaicism. (verywellhealth.com)
Karyotype4
- Key to connecting chromosomes to symptoms and traits is the karyotype, a size-order alignment of chromosome pairs in a chart. (the-scientist.com)
- A child with a collection of symptoms and an abnormal karyotype could best be diagnosed as having "an anomaly of a G group chromosome. (the-scientist.com)
- Human karyotype Genetic diseases composed of? (prezi.com)
- Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare and affect one person in every several thousands or millions. (prezi.com)
Species5
- In Muntiacus muntjac (a small SE Asian deer), the number of chromosomes differs between species: the Chinese subspecies has a haploid number of 23 (like humans) but the Assam subspecies has only 3 pairs of chromosomes. (tripod.com)
- There are hundreds of different species of viruses that infect humans. (clarkesworldmagazine.com)
- Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our mother and one from our father. (prezi.com)
- The second exon is transcriptionally expressed in most species, yet human mRNA reflects only exon 1 and exon 3, suggesting to earlier workers that the gene had a different structure. (mad-cow.org)
- Alternative splicing, resulting in exon 123 or exon 13 splice products, has been demonstrated for hamster, mouse, rat, cow, and sheep -- in all species studied except human, which so far only shows exon 13 splicing. (mad-cow.org)
Males11
- There are two Xs in females but only a single X in males, whereas the autosomal chromosomes are present in duplicate in both sexes. (tripod.com)
- The presence of a single autosome (a monosomy) is invariably an embryonic lethal event but monosomy for the X chromosome is viable because of dosage compensation, which assures equality of expression of most X-linked genes in females and males. (tripod.com)
- Females have two similar chromosomes called X chromosomes (designated as XX), whereas males have an X chromosome and a smaller Y chromosome (XY). (dave-cushman.net)
- In insects, however, the males generally have just one sex chromosome instead of a pair, this condition is referred to as XO. (dave-cushman.net)
- The only people who have a Y chromosome are males. (artvoice.com)
- Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. (rarediseases.org)
- pairs of autosomes and 1 pair of sex chromosomes (XY in Institut de Recherche pour le Développement, Montpellier, males, XX in females) (8). (cdc.gov)
- At the same time, due to their unequal pattern of inheritance in males and females, the sex chromosomes are subject to unbalanced sex-specific selection, which contributes to a nonrandom distribution of sex-biased genes compared to the remainder of the genome. (genetics.org)
- The Gallus gallus Z chromosome provides a useful opportunity to study the importance and trade-offs between sex-specific selection and dosage compensation in shaping the evolution of the genome as it shows incomplete dosage compensation and is also present twice as often in males than females, and therefore predicted to be enriched for male-biased genes. (genetics.org)
- We have 22 pairs of chromosomes called autosomes, they are equal between males and females and 2 sex chromosomes (X and Y), so in total there are 46 chromosomes. (physicsforums.com)
- Because males inherit a Y chromosome from their fathers, every son of an affected father will be affected. (prezi.com)
Proteins6
- Chromosome 16 likely contains 800 to 900 genes that provide instructions for making proteins. (medlineplus.gov)
- These genes produce proteins which in turn carry out a large variety of often complex functions in the human body. (slideshare.net)
- The human genome contains roughly 23,000 pairs of proteins that code or produce proteins. (slideshare.net)
- Bray P, Lichter P, Thiesen HJ, Ward D, Dawid IB (1991) Characterization and mapping of human genes encoding zinc finger proteins. (springer.com)
- Humans though have on average three times as many kinds of proteins as the fly or worm because of mRNA transcript "alternative splicing" and chemical modifications to the proteins. (edinformatics.com)
- The team have also fitted their new chromosome with the potential to make proteins that contain unnatural amino acids which might thus have entirely new properties. (economist.com)
Mutations6
- Due to lack of recombination with their homologs, Y and W chromosome gene activity slowly degenerates by neutral processes ( Charlesworth 1996 ) and the buildup of nonsynonymous and nonsense mutations as well as small indels ( Zhou and Bachtrog 2012 ), where the rate of decay declines with the number of functionally constrained loci ( Bachtrog 2008 ). (genetics.org)
- Gene expression loss shows a range of dominance ( Agrawal and Whitlock 2011 ), and for some genes, loss-of-function mutations on the W or Y chromosome will cause negative fitness effects ( Charlesworth 1978 ). (genetics.org)
- DeLisi had come to the Department of Energy from the National Institutes of Health (NIH) and had the view that understanding human susceptibility to environmental energy emissions could benefit from knowledge of the genome and genetic mutations linked to such susceptibility. (theconversation.com)
- X-linked dominant disorders are caused by mutations in genes on the X chromosome. (prezi.com)
- Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity RECEssIVE X-linked recessive conditions are also caused by mutations in genes on the X chromosome. (prezi.com)
- Y linked Y-linked disorders are caused by mutations on the Y chromosome. (prezi.com)
Replication1
- Chromosomes are a packaged form of the genetic material DNA (deoxyribonucleic acid), and form during cell replication. (sciencephoto.com)
19981
- The American biologist and entrepreneur Craig Venter and his company Celera Genomics entered the frame in 1998 and with private funding set up a competing human genome sequencing project in direct competition with the public project. (theconversation.com)
Organisms1
- Surprisingly, the number of human genes seems to be less than a factor of two greater than that of many much simpler organisms, such as the roundworm and the fruit fly -- see table showing number of genes for different organisms. (edinformatics.com)
Region of chromosome2
- A region of chromosome that carries information about, and controls, a particular inherited characteristic. (brainscape.com)
- They discovered a hotspot on a particular region of chromosome 16, one of the 23 pairs of chromosomes in humans, but have not yet identified the significance behind it. (discovermagazine.com)
NCBI1
- http://www.ncbi.nlm.nih.gov/pubmed/9415132?tool=bestpractice.com Normal human haemoglobin consists of a tetramer of 2 pairs of globin polypeptide chains, 1 pair of alpha-like chains and 1 pair of non-alpha chains, each of which contains a haem group. (bmj.com)
Duplications4
- Now, tiny inversions (reversals in the banding pattern), duplications, deficiencies, and translocations (chromosomes that swap parts) could be noted by trained eyes. (the-scientist.com)
- There are many other combinations of deletions or duplications of parts of chromosome 16. (verywellhealth.com)
- The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. (sciencemag.org)
- Many of the genetic differences between humans and other primates are a result of large duplications and deletions ( 1 - 3 ). (sciencemag.org)
Individual chromosomes2
- A print is developed, and the individual chromosomes are cut out and arranged in pairs by size order into a chart. (the-scientist.com)
- The staining pattern of each chromosome is unique and helps to identify individual chromosomes (along with the size). (tripod.com)
Acrocentric chromosomes1
- Aubry M, Marineau C, Zhang FR, Zahed L, Figlewicz D, Delattre O, Thomas G, Jong P de, Julien JP, Rouleau GA (1992) Cloning of six new genes with zinc fingers motifs mapping to short and long arms of human acrocentric chromosomes 22 (p and q11.2). (springer.com)
Duplication4
- In particular, studies indicate that individuals with a 16p12.2 microdeletion who have neurological or behavioral problems often have an additional, larger deletion or duplication affecting another chromosome. (medlineplus.gov)
- We document that the expansion of Nat CS genes occurs as duplicated blocks distributed across 10 of the 19 poplar chromosomes, likely only as a result of segmental duplication events. (mdpi.com)
- Overexpression of each human transcript in zebrafish embryos identified KCTD13 as the sole message capable of inducing the microcephaly phenotype associated with the 16p11.2 duplication 2, 3, 4, 5 , whereas suppression of the same locus yielded the macrocephalic phenotype associated with the 16p11.2 deletion 5, 6 , capturing the mirror phenotypes of humans. (zfin.org)
- Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire. (semanticscholar.org)
Somatic2
- At present, in the UK and in many other jurisdictions, the only permitted clinical applications of human genome editing are somatic-they involve changes to the genome that will not be inherited by the next generation. (deepdyve.com)
- In contrast, telomerase is not expressed in most human somatic tissues ( 13 , 14 ), and telomere length is significantly shorter ( 15 ). (sciencemag.org)
Meiotic5
- Light optical serial sections of premeiotic and meiotic nuclei obtained by confocal laser scanning microscopy revealed that premeiotic chromosomes 3 are separate from each other and occupy variably shaped territories, which are sectored in distinct 3 p- and q-arm domains. (biologists.org)
- Three-dimensional reconstructions of the painted chromosome domains by a Voronoi tessellation approach showed that mean chromosome volumes did not differ significantly among the premeiotic and meiotic stages investigated. (biologists.org)
- Mice lacking SIX6OS1 are defective in chromosome synapsis at meiotic prophase I, which provokes an arrest at the pachytene-like stage and results in infertility. (nature.com)
- In the meiotic malfunction that followed, the identical sister chromosomes began to synapse instead. (fsu.edu)
- Yu said the landmark study has significantly extended previous observations of the role of Pds5 in the formation of meiotic chromosome structure. (fsu.edu)
Autosomal chromosome2
- The designation for each member of the seventeenth largest human autosomal chromosome pair. (semanticscholar.org)
- 22 of these are autosomal chromosome pairs, while the remaining pair is sex-determining. (edinformatics.com)
Metaphase1
- Nine KOX zinc finger genes were localized on four human chromosomes by in situ hybridization of cDNA probes to metaphase chromosomes. (springer.com)
Structures5
- This naming is due to the capacity of chromosomes to take up histological stains more effectively than other cell structures. (tripod.com)
- Remarkably, the 3D structures of synthetic and native chromosomes are very similar. (nsf.gov)
- Chromosomes are the structures that hold your genes, which provide instructions that guide the body's development and functioning. (verywellhealth.com)
- All DNA is stored in each cell in structures we call chromosomes. (prezi.com)
- But biologically it is true, because both are eukaryotes, meaning that they have proper cell nuclei with several linear chromosomes in them, and also lots of other complex and well-defined cellular structures, called organelles. (economist.com)
Cell19
- Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
- It is only during cell division that the chromosomes condense and become detectable, like a long piece of wire suddenly coiling into a spring. (the-scientist.com)
- A derivative of the autumn crocus plant, called colchicine, was found to arrest cell division when the chromosomes are at their most striking. (the-scientist.com)
- A cell with all of the chromosomes untangled is located under the light microscope, and a photograph is taken. (the-scientist.com)
- Aneuploidy- The presence of an abnormal number of chromosomes in a cell. (nap.edu)
- For example, their tendency to gain chromosomes 12, 17, and X likens hESC to various germ cell tumors ( 3 , 4 ). (pnas.org)
- How many pairs of chromosomes are present in a human cell? (brainscape.com)
- While everyone should have 46 chromosomes in every cell of the body, chromosomes can be missing or duplicated, resulting in missing or extra genes. (verywellhealth.com)
- This is the deletion of a segment of the short arm of the chromosome of about 25 genes, affecting one of the pair of chromosome 16 in each cell. (verywellhealth.com)
- This is a hypotriploid human cell line. (atcc.org)
- Intermediate filament and cross-linked envelope expression in human lung tumor cell lines. (atcc.org)
- 3 How does the chromosome number change between the parent (original) and daughter (new) cell? (prezi.com)
- MITOSIS , how many chromosomes will a daughter (newly made) cell have? (prezi.com)
- Embryonic stem cell research destroys human life. (atlassociety.org)
- To produce a genetically balanced gamete (sperm and egg), the cell must contend with two sets of chromosome pairs, homologs and sisters,' he said. (fsu.edu)
- sisters are exactly identical pairs that are produced like photocopies as part of normal cell division. (fsu.edu)
- The question then arises, is human exon 2 cryptic [present but spliced out of mRNA] or is it only expressed in certain rare cell types or tissues or stages of development or at undetectable levels? (mad-cow.org)
- More likely, human exon 2 will turn out like hamster: preferentially expressed in some cell types under certain conditons and possibly at low -- but important -- levels in other cell types. (mad-cow.org)
- This is a hyper-triploid human cell line with a modal chromosome number of 75. (atcc.org)
Saccharomyces1
- These features prompted us to select for HBP‐encoding human cDNAs by RNA‐mediated three‐hybrid selection in Saccharomyces cerevesiae . (embopress.org)
Females1
- Because females inherit an X chromosome from their fathers, female offspring of affected fathers are never affected. (prezi.com)
Disorders2
- Strategies to identify genes for complex disorders: a focus on bipolar disorder and chromosome 16p. (rush.edu)
- More research needs to be done on all of the disorders of chromosome 16 to better understand their full implications for the individuals affected by them. (verywellhealth.com)
Autosomes2
- There are two types of chromosomes, autosomes and sex chromosomes, there is usually a single pair of sex chromosomes and the genes associated with these chromosomes account for an individual's 'maleness' or 'femaleness. (dave-cushman.net)
- These analyses are fundamental in the design of control specimens present C-heterochromatic blocks in most of campaigns because their results will help determine the their 22 chromosomes, whereas non-Andean specimens have only 4-7 autosomes with C-banding. (cdc.gov)
Abnormalities5
- A small amount of missing genetic material on the p arm of chromosome 16 causes a condition called 16p12.2 microdeletion, which is associated with physical and developmental abnormalities in some affected individuals. (medlineplus.gov)
- Since then, the field of cytogenetics-linking chromosome abnormalities with syndromes-has proceeded more or less in fits and starts, with key developments in chromosome preparation explaining more and more once mysterious medical conditions. (the-scientist.com)
- the most tolerable of an intolerable condition (trisomies are the most common chromosome abnormalities in spontaneous abortions). (tripod.com)
- Some infants with ring chromosome 4 may have multiple characteristic features, such as a low birth weight, feeding difficulties, failure to grow and gain weight at the expected rate (failure to thrive), developmental delays, malformations of the skull and facial (craniofacial) region, heart defects, and/or other physical abnormalities. (rarediseases.org)
- Definition A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. (prezi.com)
Sequences6
- In common with these structural changes in the subtelomeric regions, visualization of the overall chromosome structure by using dispersed repetitive sequences reveals that these repetitive regions also undergo extensive remodeling before pairing ( 7 ). (pnas.org)
- Therefore, hexaploid wheat possesses three related genomes, totaling 16,000 Mb in size, composed of seven sets of six related chromosomes with similar gene orders and vast tracts of related and highly repetitive sequences. (pnas.org)
- They will use the shotgun strategy for sequencing the genome, which the JGI also used to complete the draft sequences of human chromosomes 5, 16, and 19. (genomeweb.com)
- The Fugu genome contains essentially the same genes and regulatory sequences as the human genome. (genomeweb.com)
- Harper ME, Saunders GF (1981) Localization of single copy DNA sequences on G-based human chromosomes by in situ hybridization. (springer.com)
- Zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. (springer.com)
Eukaryotic chromosome1
- They thus seem to have created a robust demonstration that a synthetic eukaryotic chromosome can work. (economist.com)
Genetic material4
- It can be caused by a deletion of genetic material on chromosome 16 in a region known as 16q24.1. (medlineplus.gov)
- the strands of human genetic material tend to bunch together maddeningly, overlapping and intertwining like so much spaghetti. (the-scientist.com)
- In most affected individuals, ring chromosome 4 appears to result from loss (deletion) of genetic material from both ends of the 4th chromosome and a joining of the ends to form a ring. (rarediseases.org)
- Scientists first reported a link between a surplus of genetic material on chromosome 15 and autism in 1994, a finding that has since been replicated and confirmed to be a copy number variation. (scientificamerican.com)
Group chromosome1
- At least 45 distinct derivative chromosomes were detected in most metaphases, including two large metacentric markers which are approximately 1.5 times longer than a normal A group chromosome. (atcc.org)
Rearrangement2
- This results in a brand new set of mixture of paternal and maternal origin chromosomes each one of which may have undergone rearrangement. (tripod.com)
- Every chromosome pair had a least one rearrangement. (atcc.org)
Haploid3
- this condition is called haploid or having one half the number of chromosomes. (dave-cushman.net)
- The number of chromosomes in a single set is represented as n, which is also called the haploid number. (autismpluggedin.com)
- The Human Genome Project has revealed that there are probably about 20,000-25,000 'haploid' protein coding genes. (edinformatics.com)
Locus on chromosome2
- the locus on chromosome 7 is at JAZF1, a transcriptional repressor that is fused by chromosome translocation to SUZ12 in endometrial cancer. (elsevier.com)
- Multiple linkage studies have found evidence suggestive of another AMD locus on chromosome 16p12 but the gene responsible has yet to be identified. (cdc.gov)
Scientists6
- Scientists have identified a pair of treatments that may restore brain function to autism patients who lack a gene critical to maintaining connections between neurons, according to a study from the Peter O'Donnell Jr. Brain Institute at UT Southwestern Medical Center. (news-medical.net)
- The draft of the potato genome released last week represents the work of more than 50 scientists from 16 institutions and will provide a starting point for other researchers to develop sturdier, more nutritious potatoes. (ecnmag.com)
- His plan is to design and build long chains of human DNA, not solely by cutting and pasting small fixes-a now-routine practice, thanks to recent technologies like Crispr that let scientists edit DNA cheaply and easily-but by rewriting critical stretches of chromosomes that can then be stitched together with a naturally occurring genome. (wired.com)
- Gene sequencing allows scientists to map a chromosome. (slideshare.net)
- Scientists this month unveiled evidence that an estimated 1 percent of all autism cases may stem from a structural change involving 25 to 30 genes on chromosome 16. (scientificamerican.com)
- Scientists have identified about 1.4 million locations where single-base DNA differences (SNPs) occur in humans. (edinformatics.com)
Genes in the human genome3
- Genes on chromosome 16 are among the estimated 20,000 to 25,000 total genes in the human genome. (news-medical.net)
- The group is still debating how far to go in synthesizing human DNA, but Church-standing in his office in a rumpled sport coat, behind the slender lectern he uses as a desk-says his lab has already made its own decision on the matter: "We want to synthesize modified versions of all the genes in the human genome in the next few years. (wired.com)
- What Genes in the Human Genome cause Celiac Disease? (edinformatics.com)
Amniocentesis1
- Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. (rush.edu)
Transcriptionally silent1
- Another pattern is as follows: Chromosomes are packaged into transcriptionally silent heterochromatin and transcriptionally active euchromatin . (tripod.com)
Deletion syndrome1
- As with the deletion syndrome, they can pass the abnormal chromosome to their children who may show more severe effects. (verywellhealth.com)
MeSH1
- Chromosomes, Human, Pair 16" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)