Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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.)
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
RED BLOOD CELL sensitivity to change in OSMOTIC PRESSURE. When exposed to a hypotonic concentration of sodium in a solution, red cells take in more water, swell until the capacity of the cell membrane is exceeded, and burst.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
The susceptibility of CAPILLARIES, under conditions of increased stress, to leakage.
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.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
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)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.
The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.
A lipoprotein-associated PHOSPHOLIPASE A2 which modulates the action of PLATELET ACTIVATING FACTOR by hydrolyzing the SN-2 ester bond to yield the biologically inactive lyso-platelet-activating factor. It has specificity for phospholipid substrates with short-chain residues at the SN-2 position, but inactive against long-chain phospholipids. Deficiency in this enzyme is associated with many diseases including ASTHMA, and HYPERCHOLESTEROLEMIA.
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.
Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)

A possible involvement of aberrant expression of the FHIT gene in the carcinogenesis of squamous cell carcinoma of the uterine cervix. (1/224)

To investigate involvement of an aberrant expression of the FHIT (fragile histidine triad) gene in the process of carcinogenesis and progression in cervical carcinoma, we examined its expression by the reverse transcriptase polymerase chain reaction (RT-PCR) and cDNA sequence method in 32 cervical invasive carcinomas (25 squamous cell carcinomas and seven adeno- or adenosquamous carcinomas) and 18 of its precursor lesions [four low-grade and 14 high-grade cervical intraepithelial neoplasias (CINs)]. We also examined a link between the occurrence of the aberrant expression and human papillomavirus (HPV). We detected the aberrant FHIT transcripts in 11 of 25 (44%) cervical invasive squamous cell carcinomas and in 5 of 14 (36%) high-grade CINs (CIN 2 or 3), whereas they were not found in seven non-squamous type and four low-grade CINs (CIN 1). The alteration patterns of the FHIT gene expression in high-grade CINs were virtually similar to those found in invasive carcinomas, such that the exons 5-7 were consistently deleted associated or unassociated with loss of the exon 4 and/or 8. The incidence of the aberrant expression was not related to the presence of HPV and its type. These data indicate that the aberrant expression of the FHIT gene is observed in precursor lesions of cervical carcinoma as well as invasive carcinomas, with its incidence not increasing with advance of clinical stage. Given the squamous cell type dominant expression, the aberrant expression may play a critical role in the generation of squamous cell carcinoma of the uterine cervix, but not the consequence of the progression of the cancer.  (+info)

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome. (2/224)

The nail patella syndrome (NPS1) is an autosomal dominant disorder characterised by dysplasia of the finger nails and skeletal abnormalities. NPS1 has been mapped to 9q34, to a 1 cM interval between D9S315 and the adenylate kinase gene (AK1). We have mapped the breakpoints within the candidate NPS1 region in two unrelated patients with balanced translocations. One patient [46,XY,t(1;9)(q32.1;q34)] was detected during a systematic survey of old cytogenetic files in Denmark and southern Sweden. The other patient [46,XY,t(9;17)(q34.1;q25)] was reported previously. D9S315 and AK1 were used to isolate YACs, from which endclones were used to isolate PACs. Two overlapping PAC clones span the 9q34 breakpoints in both patients, suggesting that NPS1 is caused by haploinsufficiency due to truncation or otherwise inactivation of a gene at or in the vicinity of the breakpoints.  (+info)

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). (3/224)

The most common etiology for Prader-Willi syndrome and Angelman syndrome is de novo interstitial deletion of chromosome 15q11-q13. Deletions and other recurrent rearrangements of this region involve four common 'hotspots' for breakage, termed breakpoints 1-4 (BP1-BP4). Construction of an approximately 4 Mb YAC contig of this region identified multiple sequence tagged sites (STSs) present at both BP2 and BP3, suggestive of a genomic duplication event. Interphase FISH studies demonstrated three to five copies on 15q11-q13, one copy on 16p11.1-p11.2 and one copy on 15q24 in normal controls, while analysis on two Class I deletion patients showed loss of approximately three signals at 15q11-q13 on one homolog. Multiple FISH signals were also observed at regions orthologous to both human chromosomes 15 and 16 in non-human primates, including Old World monkeys, suggesting that duplication of this region may have occurred approximately 20 million years ago. A BAC/PAC contig for the duplicated genomic segment (duplicon) demonstrated a size of approximately 400 kb. Surprisingly, the duplicon was found to contain at least seven different expressed sequence tags representing multiple genes/pseudogenes. Sequence comparison of STSs amplified from YAC clones uniquely mapped to BP2 or BP3 showed two different copies of the duplicon within BP3, while BP2 comprised a single copy. The orientation of BP2 and BP3 are inverted relative to each other, whereas the two copies within BP3 are in tandem. The presence of large duplicated segments on chromosome 15q11-q13 provides a mechanism for homologous unequal recombination events that may mediate the frequent rearrangements observed for this chromosome.  (+info)

Role of FHIT in human cancer. (4/224)

Through investigation of hemizygous and homozygous deletions in common human cancers, including lung cancer, we have cloned and characterized a gene at chromosome region 3p14.2, FHIT, that is inactivated in epithelial tumors, particularly in tumors resulting from exposure to environmental carcinogens. In some tumors, particularly those associated with environmental carcinogens, alterations in the FHIT gene occur quite early in the development of cancer. In other cancers, Fhit inactivation seems to be a later event, possibly associated with progression to more aggressive neoplasias. Thus, detection of Fhit expression by immunohistochemistry in premalignant and malignant tissues may provide important diagnostic and prognostic information.  (+info)

Absence of chromosomal instability in spermatozoa of men affected by testicular cancer. (5/224)

Testicular germ cell cancer affects mainly young men. It is the most frequent type of cancer in 20-35 year old men. Since cancer treatment using antineoplasic drugs and ionizing radiation has a negative effect on the function of the gonads, testicular cancer patients are offered the opportunity to cryopreserve their semen samples before the beginning of therapy. For this reason it would be of interest to know whether there is chromosome instability in their spermatozoa prior to any treatment. Using the interspecific human-hamster fertilization system, we have analysed a total of 340 chromosome complements from spermatozoa of control donors and 320 chromosome complements from testicular cancer patients. There were no significant differences in the frequencies of chromosomal aberrations between controls and cancer patients (9.7 and 10.3% respectively; P = 0.4921). Our results indicate that spermatozoa from untreated testicular cancer patients do not show an increased chromosomal instability as compared to control donors.  (+info)

Cancer-specific chromosome alterations in the constitutive fragile region FRA3B. (6/224)

We have sequenced 870 kilobases of the FHIT/FRA3B locus, from FHIT intron 3 to intron 7. The locus is AT rich (61.5%) and Alu poor (6. 2%), and it apparently does not harbor other genes. In a detailed analysis of the 308-kilobase region between FHIT exon 5 and the telomeric end of intron 3, a region known to encompass a human papillomavirus-16 integration site and two clusters of aphidicolin-induced chromosome 3p14.2 breakpoints, we have precisely mapped 10 deletion and translocation endpoints in cancer-derived cell lines relative to positions of specific repetitive elements, regions of high genome flexibility and aphidicolin-induced breakpoints. Conclusions are (i) that aphidicolin-induced breakpoint clusters fall close to high-flexibility sequences, suggesting that these sequences contribute directly to aphidicolin-induced fragility; (ii) that 9 of the 10 FHIT allelic deletions in cancer cell lines resulted in loss of exons, with 7 deletion endpoints near long interspersed nuclear elements or long terminal repeat elements; and (iii) that cancer-specific deletions encompass multiple high-flexibility genomic regions, suggesting that fragile breaks may occur at these regions, whereas repair of the breaks involves homologous pairing of flanking sequences with concomitant deletion of the damaged fragile sequence.  (+info)

How many tumor suppressor genes are involved in human lung carcinogenesis? (7/224)

To date, only a limited number of tumor suppressor genes have been identified as being inactivated in lung cancer. The p53 and RB genes are frequently inactivated by genetic alterations such as chromosomal deletions and loss-of-function mutations, while the p16 gene is inactivated not only by genetic alterations but also by transcriptional silencing due to hypermethylation. Recently, it was shown that the FHIT gene encompassing the chromosomal fragile site, FRA3B, is also inactivated in a large proportion of lung cancers. Several lines of evidence indicate the presence of additional tumor suppressor genes involved in lung carcinogenesis. Lung cancer cells often show deletions at multiple chromosomal regions, and deletion mapping studies have defined more than 30 regions dispersed on 21 different chromosome arms as candidate tumor suppressor loci. Several chromosomal regions hypermethylated in lung cancer cells and a number of chromosomal fragile sites have been mapped to the regions deleted in lung cancer. These chromosomal loci can harbor unknown tumor suppressor genes inactivated in lung cancer. Studies on the inherited susceptibility to lung cancer in mice have also indicated the presence of additional tumor suppressor genes for lung cancer. Further analyses of these loci should elucidate how many tumor suppressor genes are involved in human lung carcinogenesis. Molecular and functional analyses of those genes will make it possible to fully understand the molecular mechanism of lung carcinogenesis.  (+info)

A novel region of deletion on chromosome 6q23.3 spanning less than 500 Kb in high grade invasive epithelial ovarian cancer. (8/224)

Detailed deletion mapping of chromosome 6q sequences in invasive ovarian tumors have implicated several broad regions involving 6q14-16, 6q21-23, 6q25-26, and the telomeric portion in band 6q27 as regions of frequent loss in this malignancy. In order to define regions of loss involved in the development of ovarian cancer, we used 23 polymorphic markers on 6q to examine allelic loss in 25 high-grade, late stage ovarian tumors. Four non-overlapping deletion regions were observed: (1) at 6q21-22.3 (D6S301-D6S292); (2) within a 1 cM region at 23.2-23.3 between markers D6S978-D6S1637 (at D6S311); (3) at 6q26 (between markers D6S411-D6S1277) and (4) at 6q27 with the markers D6S297 and D6S193. The highest region of loss was observed with marker D6S311 (lost in 17 of 19 informative cases, 89%) in 6q23.3, followed by D6S977 and D6S1637 (71 and 55%, respectively). The average fractional allele loss in the high-grade tumors was around 35%. Previous reports have shown 6q27 as the region of most frequent loss in invasive ovarian cancer. However, our results indicate a novel region in 6q23.3 (spanning less than 500 Kb distance between the markers) with the highest loss, implicating this region of chromosome 6q to harbor a putative tumor suppressor gene involved in the development of invasive epithelial ovarian cancer.  (+info)

Chromosome fragility refers to the susceptibility of specific regions on chromosomes to break or become unstable during cell division. These fragile sites are prone to forming gaps or breaks in the chromosome structure, which can lead to genetic rearrangements, including deletions, duplications, or translocations.

Chromosome fragility is often associated with certain genetic disorders and syndromes. For example, the most common fragile site in human chromosomes is FRAXA, located on the X chromosome, which is linked to Fragile X Syndrome, a leading cause of inherited intellectual disability and autism.

Environmental factors such as exposure to chemicals or radiation can also increase chromosome fragility, leading to an increased risk of genetic mutations and diseases.

Chromosome fragile sites are specific locations along the length of a chromosome that are prone to breakage or rearrangement when exposed to certain chemicals or conditions, such as replication stress during cell division. These sites are often characterized by the presence of repetitive DNA sequences and proteins that help maintain the stability of the chromosome.

Fragile sites can be classified into two categories: common and rare. Common fragile sites are present in most individuals and are typically not associated with genetic disorders, while rare fragile sites are less common and may be linked to specific genetic conditions or increased risk for cancer.

When a chromosome breaks at a fragile site, it can lead to various genetic abnormalities such as deletions, duplications, inversions, or translocations of genetic material. These changes can have significant consequences on gene expression and function, potentially leading to developmental disorders, intellectual disability, cancer, or other health issues.

It is important to note that not all fragile sites will result in genetic abnormalities, as some may remain stable under normal conditions. However, certain factors such as environmental exposures, aging, or inherited genetic predispositions can increase the likelihood of chromosomal instability at fragile sites.

Chromosome breakage is a medical term that refers to the breaking or fragmentation of chromosomes, which are thread-like structures located in the nucleus of cells that carry genetic information. Normally, chromosomes are tightly coiled and consist of two strands called chromatids, joined together at a central point called the centromere.

Chromosome breakage can occur spontaneously or be caused by environmental factors such as radiation or chemicals, or inherited genetic disorders. When a chromosome breaks, it can result in various genetic abnormalities, depending on the location and severity of the break.

For instance, if the break occurs in a region containing important genes, it can lead to the loss or alteration of those genes, causing genetic diseases or birth defects. In some cases, the broken ends of the chromosome may rejoin incorrectly, leading to chromosomal rearrangements such as translocations, deletions, or inversions. These rearrangements can also result in genetic disorders or cancer.

Chromosome breakage is commonly observed in individuals with certain inherited genetic conditions, such as Bloom syndrome, Fanconi anemia, and ataxia-telangiectasia, which are characterized by an increased susceptibility to chromosome breakage due to defects in DNA repair mechanisms.

Osmotic fragility is a term used in medicine, specifically in the field of hematology. It refers to the susceptibility or tendency of red blood cells (RBCs) to undergo lysis (rupture or breaking open) when exposed to hypotonic solutions (solutions with lower osmotic pressure than the RBCs). This test is often used to diagnose and monitor hereditary spherocytosis, a genetic disorder that affects the structure and stability of red blood cells.

In this condition, the RBC membrane proteins are defective, leading to abnormally shaped and fragile cells. When these abnormal RBCs come into contact with hypotonic solutions, they rupture more easily than normal RBCs due to their decreased osmotic resistance. The degree of osmotic fragility can be measured through a laboratory test called the "osmotic fragility test," which evaluates the stability and structural integrity of RBCs in response to varying osmotic pressures.

In summary, osmotic fragility is a medical term that describes the increased susceptibility of red blood cells to lysis when exposed to hypotonic solutions, often associated with hereditary spherocytosis or other conditions affecting RBC membrane stability.

Chromosomes are thread-like structures that exist in the nucleus of cells, carrying genetic information in the form of genes. They are composed of DNA and proteins, and are typically present in pairs in the nucleus, with one set inherited from each parent. In humans, there are 23 pairs of chromosomes for a total of 46 chromosomes. Chromosomes come in different shapes and forms, including sex chromosomes (X and Y) that determine the biological sex of an individual. Changes or abnormalities in the number or structure of chromosomes can lead to genetic disorders and diseases.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Capillary fragility refers to the susceptibility of the small blood vessels, or capillaries, to damage and rupture. Capillaries are tiny, hair-like vessels that form a network between arteries and veins, allowing oxygenated blood to flow from the heart to the rest of the body, and deoxygenated blood to return to the heart.

Capillary fragility can be caused by various factors, including genetics, aging, certain medical conditions (such as hypertension, diabetes, and vitamin C deficiency), and medications (such as corticosteroids). When capillaries become fragile, they may rupture easily, leading to bleeding under the skin, bruising, or other symptoms.

In clinical settings, capillary fragility is often assessed through a test called the "tourniquet test," which measures the time it takes for bruising to appear after applying pressure to a small area of the skin. A longer-than-normal time may indicate capillary fragility. However, this test has limitations and is not always reliable in diagnosing capillary fragility.

Chromosome banding is a technique used in cytogenetics to identify and describe the physical structure and organization of chromosomes. This method involves staining the chromosomes with specific dyes that bind differently to the DNA and proteins in various regions of the chromosome, resulting in a distinct pattern of light and dark bands when viewed under a microscope.

The most commonly used banding techniques are G-banding (Giemsa banding) and R-banding (reverse banding). In G-banding, the chromosomes are stained with Giemsa dye, which preferentially binds to the AT-rich regions, creating a characteristic banding pattern. The bands are numbered from the centromere (the constriction point where the chromatids join) outwards, with the darker bands (rich in A-T base pairs and histone proteins) labeled as "q" arms and the lighter bands (rich in G-C base pairs and arginine-rich proteins) labeled as "p" arms.

R-banding, on the other hand, uses a different staining procedure that results in a reversed banding pattern compared to G-banding. The darker R-bands correspond to the lighter G-bands, and vice versa. This technique is particularly useful for identifying and analyzing specific regions of chromosomes that may be difficult to visualize with G-banding alone.

Chromosome banding plays a crucial role in diagnosing genetic disorders, identifying chromosomal abnormalities, and studying the structure and function of chromosomes in both clinical and research settings.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

Sex chromosomes, often denoted as X and Y, are one of the 23 pairs of human chromosomes found in each cell of the body. Normally, females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). The sex chromosomes play a significant role in determining the sex of an individual. They contain genes that contribute to physical differences between men and women. Any variations or abnormalities in the number or structure of these chromosomes can lead to various genetic disorders and conditions related to sexual development and reproduction.

Human chromosome pair 1 refers to the first pair of chromosomes in a set of 23 pairs found in the cells of the human body, excluding sex cells (sperm and eggs). Each cell in the human body, except for the gametes, contains 46 chromosomes arranged in 23 pairs. These chromosomes are rod-shaped structures that contain genetic information in the form of DNA.

Chromosome pair 1 is the largest pair, making up about 8% of the total DNA in a cell. Each chromosome in the pair consists of two arms - a shorter p arm and a longer q arm - connected at a centromere. Chromosome 1 carries an estimated 2,000-2,500 genes, which are segments of DNA that contain instructions for making proteins or regulating gene expression.

Defects or mutations in the genes located on chromosome 1 can lead to various genetic disorders and diseases, such as Charcot-Marie-Tooth disease type 1A, Huntington's disease, and certain types of cancer.

Chromosomes are thread-like structures that contain genetic material, i.e., DNA and proteins, present in the nucleus of human cells. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each diploid cell. Twenty-two of these pairs are called autosomal chromosomes, which come in identical pairs and contain genes that determine various traits unrelated to sex.

The last pair is referred to as the sex chromosomes (X and Y), which determines a person's biological sex. Females have two X chromosomes (46, XX), while males possess one X and one Y chromosome (46, XY). Chromosomes vary in size, with the largest being chromosome 1 and the smallest being the Y chromosome.

Human chromosomes are typically visualized during mitosis or meiosis using staining techniques that highlight their banding patterns, allowing for identification of specific regions and genes. Chromosomal abnormalities can lead to various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

Bacterial chromosomes are typically circular, double-stranded DNA molecules that contain the genetic material of bacteria. Unlike eukaryotic cells, which have their DNA housed within a nucleus, bacterial chromosomes are located in the cytoplasm of the cell, often associated with the bacterial nucleoid.

Bacterial chromosomes can vary in size and structure among different species, but they typically contain all of the genetic information necessary for the survival and reproduction of the organism. They may also contain plasmids, which are smaller circular DNA molecules that can carry additional genes and can be transferred between bacteria through a process called conjugation.

One important feature of bacterial chromosomes is their ability to replicate rapidly, allowing bacteria to divide quickly and reproduce in large numbers. The replication of the bacterial chromosome begins at a specific origin point and proceeds in opposite directions until the entire chromosome has been copied. This process is tightly regulated and coordinated with cell division to ensure that each daughter cell receives a complete copy of the genetic material.

Overall, the study of bacterial chromosomes is an important area of research in microbiology, as understanding their structure and function can provide insights into bacterial genetics, evolution, and pathogenesis.

Chromosome segregation is the process that occurs during cell division (mitosis or meiosis) where replicated chromosomes are separated and distributed equally into two daughter cells. Each chromosome consists of two sister chromatids, which are identical copies of genetic material. During chromosome segregation, these sister chromatids are pulled apart by a structure called the mitotic spindle and moved to opposite poles of the cell. This ensures that each new cell receives one copy of each chromosome, preserving the correct number and composition of chromosomes in the organism.

Human chromosome pair 7 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

Human chromosome pair 11 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are located on the eleventh position in the standard karyotype, which is a visual representation of the 23 pairs of human chromosomes.

Chromosome 11 is one of the largest human chromosomes and contains an estimated 135 million base pairs. It contains approximately 1,400 genes that provide instructions for making proteins, as well as many non-coding RNA molecules that play a role in regulating gene expression.

Chromosome 11 is known to contain several important genes and genetic regions associated with various human diseases and conditions. For example, it contains the Wilms' tumor 1 (WT1) gene, which is associated with kidney cancer in children, and the neurofibromatosis type 1 (NF1) gene, which is associated with a genetic disorder that causes benign tumors to grow on nerves throughout the body. Additionally, chromosome 11 contains the region where the ABO blood group genes are located, which determine a person's blood type.

It's worth noting that human chromosomes come in pairs because they contain two copies of each gene, one inherited from the mother and one from the father. This redundancy allows for genetic diversity and provides a backup copy of essential genes, ensuring their proper function and maintaining the stability of the genome.

Human chromosome pair 17 consists of two rod-shaped structures present in the nucleus of each human cell. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex called chromatin. Chromosomes carry genetic information in the form of genes, which are segments of DNA that contain instructions for the development and function of an organism.

Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 17 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome 17 is a medium-sized chromosome and contains an estimated 800 million base pairs of DNA. It contains approximately 1,500 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome 17 is associated with several genetic disorders, including inherited cancer syndromes such as Li-Fraumeni syndrome and hereditary nonpolyposis colorectal cancer (HNPCC). Mutations in genes located on chromosome 17 can increase the risk of developing various types of cancer, including breast, ovarian, colon, and pancreatic cancer.

Lissencephaly is a rare neurological disorder characterized by the absence or significant reduction of normal folds (gyri) and sulci (grooves) in the cerebral cortex of the brain. The cerebral cortex, which is responsible for higher brain functions such as thinking, learning, and language, usually has a smooth, flat appearance in individuals with lissencephaly. This condition results from abnormal neuronal migration during fetal development, where nerve cells fail to migrate to their proper positions in the brain.

There are several types of lissencephaly, each with distinct genetic causes and associated symptoms. The most common form is Type I (Classic) Lissencephaly, which affects both hemispheres of the brain and is characterized by a smooth brain surface with four bands of shallow grooves. Other forms include Type II (Cobblestone) Lissencephaly, Miller-Dieker Syndrome, and X-linked Lissencephaly with Ambiguous Genitalia (XLAG).

Symptoms of lissencephaly can vary but often include severe intellectual disability, developmental delays, muscle spasticity or hypotonia, seizures, difficulty swallowing, and problems with vision and hearing. The severity of the condition depends on the extent of the brain malformation. Lissencephaly is a lifelong condition, and individuals with this disorder usually require extensive care and support throughout their lives.

Cobblestone lissencephaly is a type of brain malformation characterized by a smooth brain surface with no normal convolutions (gyri) or indentations (sulci). Instead, the brain surface has a pebbly or "cobblestone" appearance. This condition is caused by abnormal migration of nerve cells during fetal development.

In cobblestone lissencephaly, the nerve cells that should form the outer layer of the brain (the cerebral cortex) fail to migrate properly and instead accumulate in thick layers beneath the surface of the brain. This can lead to severe intellectual disability, seizures, muscle spasticity, vision problems, and other neurological issues.

Cobblestone lissencephaly is often associated with genetic disorders such as Walker-Warburg syndrome, Muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy. It can also be seen in some cases of congenital infection or exposure to environmental toxins during pregnancy.

The cerebral cortex is the outermost layer of the brain, characterized by its intricate folded structure and wrinkled appearance. It is a region of great importance as it plays a key role in higher cognitive functions such as perception, consciousness, thought, memory, language, and attention. The cerebral cortex is divided into two hemispheres, each containing four lobes: the frontal, parietal, temporal, and occipital lobes. These areas are responsible for different functions, with some regions specializing in sensory processing while others are involved in motor control or associative functions. The cerebral cortex is composed of gray matter, which contains neuronal cell bodies, and is covered by a layer of white matter that consists mainly of myelinated nerve fibers.

1-Alkyl-2-acetylglycerophosphocholine esterase is an enzyme that hydrolyzes the ester bond in 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine (also known as platelet-activating factor, PAF), resulting in the production of 1-alkyl-2-lyso-sn-glycero-3-phosphocholine and acetate. This enzyme is involved in the regulation of PAF levels and thus plays a role in the modulation of various physiological processes, including inflammation and allergic responses.

Nervous system malformations, also known as nervous system dysplasias or developmental anomalies, refer to structural abnormalities or defects in the development of the nervous system. These malformations can occur during fetal development and can affect various parts of the nervous system, including the brain, spinal cord, and peripheral nerves.

Nervous system malformations can result from genetic mutations, environmental factors, or a combination of both. They can range from mild to severe and may cause a wide variety of symptoms, depending on the specific type and location of the malformation. Some common examples of nervous system malformations include:

* Spina bifida: a defect in the closure of the spinal cord and surrounding bones, which can lead to neurological problems such as paralysis, bladder and bowel dysfunction, and hydrocephalus.
* Anencephaly: a severe malformation where the brain and skull do not develop properly, resulting in stillbirth or death shortly after birth.
* Chiari malformation: a structural defect in the cerebellum, the part of the brain that controls balance and coordination, which can cause headaches, neck pain, and difficulty swallowing.
* Microcephaly: a condition where the head is smaller than normal due to abnormal development of the brain, which can lead to intellectual disability and developmental delays.
* Hydrocephalus: a buildup of fluid in the brain that can cause pressure on the brain and lead to cognitive impairment, vision problems, and other neurological symptoms.

Treatment for nervous system malformations depends on the specific type and severity of the condition and may include surgery, medication, physical therapy, or a combination of these approaches.

Neurons, also known as nerve cells or neurocytes, are specialized cells that constitute the basic unit of the nervous system. They are responsible for receiving, processing, and transmitting information and signals within the body. Neurons have three main parts: the dendrites, the cell body (soma), and the axon. The dendrites receive signals from other neurons or sensory receptors, while the axon transmits these signals to other neurons, muscles, or glands. The junction between two neurons is called a synapse, where neurotransmitters are released to transmit the signal across the gap (synaptic cleft) to the next neuron. Neurons vary in size, shape, and structure depending on their function and location within the nervous system.

Classical lissencephaly and subcortical band heterotopia are rare neurological conditions that affect the development of the brain. These conditions are characterized by abnormal migration of nerve cells (neurons) during fetal development, leading to a smooth brain surface or disorganized layers of neurons.

Classical lissencephaly, also known as "smooth brain," is a condition where the brain's surface appears smooth due to the absence of normal convolutions (gyri) and sulci. This occurs because the nerve cells fail to migrate properly during fetal development, resulting in a thickened cortex with disorganized layers of neurons.

Subcortical band heterotopia, also known as "double cortex syndrome," is a condition where there are abnormal clusters of nerve cells located between the cortex and the white matter of the brain. These clusters form a band-like structure beneath the cerebral cortex, hence the name "subcortical."

Both classical lissencephaly and subcortical band heterotopia can result in varying degrees of intellectual disability, developmental delay, seizures, motor impairment, and visual abnormalities. The severity of these symptoms depends on the extent and location of the brain abnormalities.

These conditions are typically caused by genetic mutations that affect genes involved in neuronal migration during fetal development. In some cases, they can be inherited from parents or occur spontaneously due to new mutations.

Freudenreich CH (September 2007). "Chromosome fragility: molecular mechanisms and cellular consequences". Frontiers in ... Holocentric chromosomes were described for the first time by Franz Schrader in 1935, who identified chromosomes with a diffuse ... Holocentric chromosomes are chromosomes that possess multiple kinetochores along their length rather than the single centromere ... Since this first observation, the term holocentric chromosome has referred to chromosomes that: i) lack the primary ...
In some patients, blood tests indicate increased chromosome fragility. Some fetuses die in utero (intrauterine fetal demise)." ... In addition, after DNA is copied, ChlR1 plays a role in ensuring proper separation of each chromosome during cell division. By ...
This condition is caused by a mutation in the SGMS2 gene, located on the long arm of the 4th chromosome. The mutations result ... June 2022). "SGMS2 mutation in a large Filipino family with calvarial doughnut lesions with bone fragility and juvenile-onset ... "KEGG DISEASE: Calvarial doughnut lesions with bone fragility". www.genome.jp. Retrieved 11 October 2022. Pekkinen M, Terhal PA ... Calvarial doughnut lesions-bone fragility syndrome, also known as familial calvarial doughnut lesions, is a rare autosomal ...
... in chromosome 6. It was first discovered in 2002 by Whittock et al. when they described 2 un-related patients with the symptoms ... Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a very rare genetic disorder which is characterized by fragile ... "Skin fragility-woolly hair-palmoplantar keratoderma syndrome - About the Disease - Genetic and Rare Diseases Information Center ... "Orphanet: Skin fragility woolly hair palmoplantar keratoderma syndrome". www.orpha.net. Retrieved 2022-06-04. "OMIM Entry - # ...
... chemotherapy toxicity and may display chromosome fragility" (PDF). Genetics in Medicine. 20 (4): 452-457. doi:10.1038/gim. ... Genes on human chromosome 14, Protein pages needing a picture, Human gene pages with Wikidata item, Human proteins). ... the DNA of a homologous chromosome that is not broken forming a displacement loop (D-loop). After strand invasion, the further ...
Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay ... Furthermore, cells will show chromosomal aberrations, the most frequent being monosomy 7 and partial trisomies of chromosome 3q ... as this gene is on the X chromosome. These genes are involved in DNA repair.[citation needed] The carrier frequency in the ... which means that if the mother carries one mutated Fanconi anemia allele on one X chromosome, a 50% chance exists that male ...
"Human chromosome fragility", Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 1779 (1): 3-16, doi:10.1016/j. ... A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend ... For a database of fragile sites in human chromosomes, see Rare fragile sites (RFSs) are classified into two sub-groups based on ... Common fragile sites are considered part of normal chromosome structure and are present in all (or nearly all) individuals in a ...
Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. PKP1 has been shown to ... v t e (CS1: long volume value, Articles with short description, Short description matches Wikidata, Genes on human chromosome 1 ... Skin fragility syndrome GRCh38: Ensembl release 89: ENSG00000081277 - Ensembl, May 2017 GRCm38: Ensembl release 89: ... "Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)". Hofmann I, Mertens C, Brettel M, Nimmrich V, ...
... chromosome instability MeSH C23.550.210.110.180 - chromosome fragility MeSH C23.550.210.170 - chromosome breakage MeSH C23.550. ... chromosome fragility MeSH C23.550.382.250 - eosinophilic granuloma MeSH C23.550.382.375 - granuloma annulare MeSH C23.550. ... ring chromosomes MeSH C23.550.210.815 - sex chromosome aberrations MeSH C23.550.210.815.970 - xyy karyotype MeSH C23.550. ... 210.175 - chromosome deletion MeSH C23.550.210.420 - inversion, chromosome MeSH C23.550.210.430 - isochromosomes MeSH C23.550. ...
... chromosome fragility MeSH G13.920.590.175.175 - chromosome breakage MeSH G13.920.590.175.177 - chromosome deletion MeSH G13.920 ... chromosome fragility MeSH G13.380.350 - gene dosage MeSH G13.380.355 - genetic predisposition to disease MeSH G13.380.360 - ... ring chromosomes MeSH G13.920.590.175.815 - sex chromosome aberrations MeSH G13.920.590.175.815.970 - xyy karyotype MeSH ... 420 - inversion, chromosome MeSH G13.920.590.175.430 - isochromosomes MeSH G13.920.590.175.570 - micronuclei, chromosome- ...
... "higher rates of chromosome fragility, higher mortality, and a higher incidence of abnormal fetal development when compared with ...
Tarda was used to classify the modern OI type I and some cases of type IV, where the inherent fragility of the bones did not ... Cases of this type are caused by mutations in the IFITM5 gene on chromosome 11p15.5. The separation of type V from type IV OI, ... Type XIX - OI caused by hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. Thus far, OI type XIX is the only known ... Type VIII - OI caused by a mutation in the gene LEPRE1 on chromosome 1p34.2; clinically similar to OI types II and III, ...
The COL1A1 gene is located on the long (q) arm of chromosome 17 between positions 21.3 and 22.1, from base pair 50183289 to ... which results in bone fragility and other symptoms. Osteogenesis imperfecta, type II: Many different types of mutations in the ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, CS1: long volume value). ... specific heterozygous arginine-to-cysteine substitution mutations in COL1A1 that are also associated with vascular fragility ...
A haploinsufficiency of the ATP2C1 gene located on chromosome 3, which encodes the protein hSPCA1, causes malformation of the ... Ectodermal dysplasia or skin fragility syndrome is caused by plakophillin 1 mutations. This is manifested by detachment of ...
... arm of chromosome 11 at position 14.3 Molecular location: base pairs 22,192,485 to 22,283,367 on chromosome 11 (Homo sapiens ... GDD causes bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients also experience ...
v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 3, CS1: long volume value ... a connective tissue disorder characterized by bone fragility and low bone mass. GRCh38: Ensembl release 89: ENSG00000170275 - ... 1999). "cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein". Matrix ... characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)". Cytogenet. Cell Genet ...
Khan AO, Aldahmesh MA, Mohamed JN, Alkuraya FS (2010). "Blue sclera with and without corneal fragility (brittle cornea syndrome ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, Wikipedia articles ... incorporating text from the United States National Library of Medicine, All stub articles, Human chromosome 16 gene stubs). ...
Upon its recruitment by FANCD2, FAN1 acts to restrain DNA replication fork progression and to prevent chromosome abnormalities ... Analysis of blood samples revealed only mild ICL agent sensitivity and chromosomal fragility consistent with Fanconi Anemia. A ... Portal: Biology (Articles with short description, Short description matches Wikidata, Genes on human chromosome 15, Wikipedia ... suggests that the gapped intermediate that forms following ICL unhooking may be repaired through HR when homologous chromosomes ...
This is caused by a mutation in the gene TGFBR on either chromosome 3 or 9 depending on the type. Ullrich congenital muscular ... Ehlers-Danlos syndromes - a heterogeneous group of disorders characterized by connective tissue fragility. Most, but not all, ...
Type 1 has mutations in the protein disulfide-isomerase (P4HB) gene located on the long arm of chromosome 17 (17q25). Type 2 ... Cole DEC, Carpenter, TO (1987) Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial ... located on the short arm of chromosome 3 (3p22.3). Clinically these forms are very similar and are best differentiated by gene ... have mutations in the protein transport protein Sec24D (SEC24D) gene located on the long arm of chromosome 4 (4q26). A third ...
The human P4HB gene is localized in chromosome 17q25. Unlike other prolyl 4-hydroxylase family proteins, this protein is ... Furthermore, heterozygous missense mutation in P4HB can cause Cole-Carpenter syndrome, a severe bone fragility disorder. P4HB ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, CS1: long volume value, ...
Also, it was observed statistically significant changes in osmotic erythrocyte fragility in TAAR5-KO mice. Mutations in the ... 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. Bibcode:2003Natur.425..805M. doi: ... Genes on human chromosome 6, Wikipedia articles incorporating text from the United States National Library of Medicine, G ... "Minor Changes in Erythrocyte Osmotic Fragility in Trace Amine-Associated Receptor 5 (TAAR5) Knockout Mice". International ...
Riddoch syndrome Right middle lobe syndrome Riley-Day Syndrome Riley-Day syndrome Ring chromosome 14 syndrome Ring chromosome ... syndrome Singleton Merten syndrome Situs ambiguus Sjögren's syndrome Sjögren-Larsson syndrome Skeeter syndrome Skin fragility ... myelodysplastic syndrome Childhood tumor syndrome Chinese Restaurant Syndrome Chromosomal deletion syndrome Chromosome 5q ...
The gene that codes for PIGA is located on the X chromosome. As males have only a single X chromosome and, in females, one is ... The Ham test involves placing red blood cells in mild acid; a positive result (increased RBC fragility) indicates PNH or ...
The most common mutations are D187N/Y (G654A/T on gene GSN, chromosome 9) with additional reports of G167R, N184K, P432R, A551P ... skin fragility with ecchymosis, facial mask, diffuse hair loss, dry skin, carpal tunnel syndrome, nephrotic syndrome, ...
... , also known as LUM, is an extracellular matrix protein that, in humans, is encoded by the LUM gene on chromosome 12. ... skin fragility and corneal opacity in the absence of lumican". The Journal of Cell Biology. 141 (5): 1277-86. doi:10.1083/jcb. ... to chromosome 12q21.3-q22". Genomics. 27 (3): 481-8. doi:10.1006/geno.1995.1080. PMID 7558030. Iozzo RV, Schaefer L (Mar 2015 ...
The gene for KCa2.3, KCNN3, is located on chromosome 1q21. KCa2.3 is found in the central nervous system (CNS), muscle, liver, ... 2006). "Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility". Hum. ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 1, Neurochemistry, Ion ...
The first case was in 1897 of a male who was described by Bruck as having bone fragility and bone contractures. Bruck was ... Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17". Proceedings of the National Academy of ... Diagnosis of Bruck syndrome must distinguish the association of contractures and skeletal fragility. Ultrasound is used for ... 1998). "Brack syndrome: a rare combination of bone fragility and multiple congenital joint contractures". Journal of Pediatric ...
v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 15, All stub articles, ... and multisystem fragility-related manifestations". American Journal of Medical Genetics. Part A. 152A (6): 1333-46. doi:10.1002 ... of chromosome 15 at position 15.1, from base pair 40,470,961 to base pair 40,474,571. The CHST14 gene is 3,611 bases long, ... combined with progressive fragility of affected structures, with increased incidence of bruising, recurrent joint dislocations ...
Homologous chromosomes move and rapidly initiate contact at the sites of double-strand breaks in genes in G0-phase human cells ... DNA topoisomerases participate in fragility of the oncogene RET. PLoS One. 2013 Sep 11;8(9):e75741. Mehta RS, Carty SE, Ohori ...
Freudenreich CH (September 2007). "Chromosome fragility: molecular mechanisms and cellular consequences". Frontiers in ... Holocentric chromosomes were described for the first time by Franz Schrader in 1935, who identified chromosomes with a diffuse ... Holocentric chromosomes are chromosomes that possess multiple kinetochores along their length rather than the single centromere ... Since this first observation, the term holocentric chromosome has referred to chromosomes that: i) lack the primary ...
Chromosome Fragility * Chromosome Mapping * DNA, Complementary / analysis * DNA, Complementary / genetics * Doublecortin Domain ...
Mutagen-induced chromosome fragility. * Sunlight (cancer of the lower lip and malignant disease of skin) ...
Spatial chromosome folding and active transcription drive DNA fragility and formation of oncogenic MLL translocations. Mol. ... A differentially looped syntenic region of mouse chromosome 12 and human chromosome 14, in which the variable loop is anchored ... Ever since chromosomes were first observed microscopically, it has been speculated that their 3D structure plays a central role ... 3D chromosome regulatory landscape of human pluripotent cells. Cell Stem Cell 18, 262-275 (2016). ...
Chromosome fragility is a diagnostic feature of Fanconi anemia; TAR patients should probably be tested for this to exclude ...
Your sudden death taught us the fragility of life is never to be taken for granted. Many would think that your passing is a ... Donate now to increase awareness and research into chromosome disorders. Chromosome Disorder Outreach is a 501(c)(3) non-profit ... You are donating to : Chromosome Disorder Outreach, Inc, a 501(c)(3) non-profit organization. How much would you like to donate ... Chromosome Disorder Outreach, Inc.. P.O. Box 724. Boca Raton, FL 33429-0724. [email protected] ...
These expanded CAG repeats create sites of chromosome fragility that are prone to breakage and require repair. There are ... Work from our lab has shown that deletion of only one or two of the TLS polymerases had CAG fragility levels similar to those ... Investigating the Role of Translesion Synthesis in the Prevention of CAG Repeat Fragility in S. cerevisiae. Wu, Katherine. ... in suppressing repeat fragility had not yet been investigated. In S. cerevisiae, more commonly budding yeast, Rad30 (pol η), ...
... genomic instability and chromosome fragility in both the yeast and human genome. ... genomic instability and chromosome fragility in both the yeast and human genome. ... genomic instability and chromosome fragility in both the yeast and human genome. ... genomic instability and chromosome fragility in both the yeast and human genome. ...
Common chromosomal fragile sites (CFSs) are genomic regions prone to form breaks and gaps on metaphase chromosomes during ... Fragility at CFSs is caused by transcription of extremely large genes, which contributes to replication problems. These ... Our results stress that while the large intron clearly contributes to the fragility of PRKN, it does not play an important role ... Large Intronic Deletion of the Fragile Site Gene PRKN Dramatically Lowers Its Fragility Without Impacting Gene Expression. ...
An increased chromosome fragility has been observed in one in-vitro study on lymphocytes taken from patients after long term ... In vitro and in vivo genotoxicity studies on gene mutations and induction of chromosome aberrations have been negative. ...
The aim of the project is to improve the surveillance of patients with chromosome 6 aberrations and the support for their ... The Chromosome 6 Project is a collaboration between researchers and clinicians at the University Medical Center Groningen and ... members of a Chromosome 6 support group on Facebook. ... Human chromosome fragility. Biochim Biophys Acta BBA Gene Regul ... In 2013, we started the Chromosome 6 Project, a successful collaboration with a Chromosome 6 parent support group on Facebook [ ...
This locus was in epistasis to a modifier locus on rat chromosome 2 at D2Mit14 (LOD score 2.12). A second major locus was ... A trait of vascular fragility, characterized by the formation of abrupt defects within the elastic laminae of the abdominal ... Two major quantitative trait loci (QTLs) for number of internal elastic lamina lesions were identified on rat chromosomes 5 and ... Further analysis revealed that the chromosome 10 locus exhibits a dominant mode of inheritance, with BN alleles being ...
O Abnormality of chromosome condensation,O Abnormality of chromosome segregation,O Abnormality of chromosome stability,O ... O Skin fragility with non-scarring blistering,O Skin nodule,O Skin pit,O Skin plaque,O Skin rash,O Skin tags,O Skin ulcer,O ... O Chromosome breakage,O Chronic,O Chronic CSF lymphocytosis,O Chronic acidosis,O Chronic active Epstein-Barr virus infection,O ... O Capillary fragility,O Capillary hemangioma,O Capillary leak,O Capillary malformation,O Capillary malformation of the lip,O ...
Warren used the unusual fragility of the X chromosome in patients with fragile X as a tool to begin the search for the ... Because the FMR1 gene is located on the X chromosome, males are typically more severely affected than females, but there is a ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
Chromosome Fragility. Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE ... Chromosome Aberrations. Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. ... There are several types of chromosome fragility, including:. 1. Fragile X syndrome: This is the most common form of chromosome ... Chromosomes, Human, Pair 4. A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.. ...
Mutagen-induced chromosome fragility. * Sunlight (cancer of the lower lip and malignant disease of skin) ...
High chromosome fragility in two sheep herds exposed to high doses of dioxins during pasturage. (Abstract/Poster in atti di ... High chromosome fragility in two sheep herds exposed to high doses of dioxins during pasturage. (Abstract/Poster in atti di ... Chromosome fragility in dairy cows exposed to dioxins and dioxin-like PCBs. (Articolo in rivista) (Prodotto della ricerca) ... Chromosome fragility in two sheep herds exposed to dioxins during pasturage. (Abstract/Poster in atti di convegno) (Prodotto ...
Syndromes with somatic cell chromosome aneuploidy, e.g., Down (chromosome 21 trisomy), Klinefelter (XXY and variants), and ... Inherited diseases with excessive chromatin fragility, e.g., Fanconi anemia, ataxia telangiectasia and, Kostmann syndrome, are ... In contrast was that extended cytogenetics analysis did not reveal either dicentric or polycentric chromosomes or interstitial ... extended cytogenetics analysis did reveal neither dicentric or polycentric chromosomes nor interstitial deletions, centric ...
  • These expanded CAG repeats create sites of chromosome fragility that are prone to breakage and require repair. (tufts.edu)
  • This observation cells into question the traditional concept of a gap (G2) between DNA replication and chromosome condensation for mitosis, and it may explain sites of chromosome fragility. (grantome.com)
  • and ii) possess multiple kinetochores dispersed along the entire chromosomal axis, such that microtubules bind to the chromosome along its entire length and move broadside to the pole from the metaphase plate. (wikipedia.org)
  • Common chromosomal fragile sites (CFSs) are genomic regions prone to form breaks and gaps on metaphase chromosomes during conditions of replication stress. (ku.dk)
  • Compromising TRF1 expression by elevating miR-155 increased telomere fragility and altered the structure of metaphase chromosomes. (uniud.it)
  • The frequency of these rearrangements is high enough to be detected upon routine cytogenetic examination of metaphase chromosomes. (biomedcentral.com)
  • A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child. (bmj.com)
  • Telomere abnormalities and chromosome fragility in patients affected by familial papillary thyroid cancer. (unica.it)
  • The aim of the project is to improve the surveillance of patients with chromosome 6 aberrations and the support for their families by increasing the available information about these rare aberrations. (biomedcentral.com)
  • An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (lookformedical.com)
  • Chromosome aberrations may result in CHROMOSOME DISORDERS. (lookformedical.com)
  • or other CHROMOSOME BREAKAGE related aberrations. (lookformedical.com)
  • Advances in molecular biology techniques allow us to obtain a better understanding of precise molecular mechanisms and to identify the chromosome instability region and key driver genes in the carcinogenesis and progression of SOC. (bvsalud.org)
  • In vitro and in vivo genomic engineering, leveraging loss-of-function studies, along with a model of partial trisomy of chromosome 21q, demonstrated a dosage-dependent effect of the interferon receptor genes cluster as an adaptive mechanism to deleterious chromosomal instability in metastatic progression. (bvsalud.org)
  • The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. (biomedcentral.com)
  • Note that the instability is not in the centromere itself, but rather in the region adjacent to the centromere (qh), predominantly in chromosomes 1 and 16. (biomedcentral.com)
  • This binding triggers chromosome breakage and genome instability. (dnagenetics.info)
  • Chromosome breakage causes genome instability which is an enabling characteristic of cancer . (dnagenetics.info)
  • Fragility at CFSs is caused by transcription of extremely large genes, which contributes to replication problems. (ku.dk)
  • A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)
  • Depletion of SETX induces spontaneous under-replication and chromosome fragility due to active transcription and R-loops that persist in mitosis. (unipa.it)
  • They will study late DNA replication in cells sorted with an antibody to phosphorylated histone H3 and in conditions that promote chromosome fragility. (grantome.com)
  • We show that the Srs2 protein facilitates replication of hairpin-forming CGG/CCG repeats and prevents chromosome fragility at the repeat, whereas it does not affect replication of G-quadruplex forming sequences or a protein-bound repeat. (uthscsa.edu)
  • Telomeres consist of DNA tandem repeats that recruit the multiprotein complex shelterin to build a chromatin structure that protects chromosome ends. (uniud.it)
  • Terminal 6q deletions are a variable group of chromosome disorders, with the largest deletions extending from 6q25.2 to 6qter (up to 16 Mb in size) and the smallest deletions restricted to the most distal band 6q27 (as small as 390 kb in size) [ 1 ]. (biomedcentral.com)
  • Much of this DNA hypomethylation is in 1qh, 9qh, and 16qh, regions that are the site of whole-arm deletions, chromatid and chromosome breaks, stretching (decondensation), and multiradial chromosome junctions in mitogen-stimulated lymphocytes. (biomedcentral.com)
  • These include changes within the SATB2 gene itself and deletions of large pieces of DNA from chromosome 2 that remove the SATB2 gene and other nearby genes. (medlineplus.gov)
  • Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. (lookformedical.com)
  • While abnormal mitosis, including whole-genome duplication, underlies chromosomal copy-number changes, segmental alterations display signatures of successive breakage-fusion-bridge cycles and chromothripsis of unstable dicentric chromosomes. (bvsalud.org)
  • They eventually went on to discover that this binding of EBNA1 to the chromosome 11q23 triggers its breakage. (dnagenetics.info)
  • In addition, chromosome breakage also causes structural variations along chromosome 11, another driver of cancer. (dnagenetics.info)
  • This binding triggers DNA breakage and structural variations of chromosome 11. (dnagenetics.info)
  • Identification of two susceptibility loci for vascular fragility in the Brown Norway rat. (mcw.edu)
  • This is the first study to identify susceptibility loci for vascular elastic tissue fragility. (mcw.edu)
  • 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). (lookformedical.com)
  • Down (chromosome 21 trisomy), Klinefelter (XXY and variants), and Patau (chromosome 13 trisomy), are also associated with an increased risk of AML. (biomedcentral.com)
  • Sperm production in males is controlled by a series of male-specific genes found on Y chromosome. (ivfclinicsworldwide.com)
  • Chromosomes carry long pieces of DNA that hold our genes, these have caps on the end of them called telomeres to help hold everything in so to speak. (worldhealth.net)
  • A key 2003 study of Icelandic patients with osteoporosis identified a region on Chromosome 20 which "contains a gene or genes that appear to be a major risk factor for osteoporosis and osteoporotic fractures. (healthline.com)
  • Abnormal number or structure of chromosomes. (lookformedical.com)
  • The etiology of this abnormal growth process is related to a mutation in the gene that encodes the subunit of a stimulatory G protein (Gsα) located on chromosome 20. (medscape.com)
  • Two major quantitative trait loci (QTLs) for number of internal elastic lamina lesions were identified on rat chromosomes 5 and 10, with the maximum "log of the odds ratio" (LOD) scores at D5Rat119 (LOD 5.0) and at D10Mit2 (LOD 4.5), respectively, together contributing 33.5% to the genetic variance. (mcw.edu)
  • Y chromosome structure, however, is not as stable as of other chromosomes' since it lacks a gene necessary for fixing mistakes made during duplication of the genetic material. (ivfclinicsworldwide.com)
  • Chromosomes are the genetic material that gives us our unique characteristics. (animalonline.info)
  • Telomeres cap the ends of our chromosomes and protect our genetic code during cell division. (aminoco.com)
  • Each chromosome contains the genetic information necessary to keep all the cells in our body healthy and functioning at peak capacity. (aminoco.com)
  • A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species. (lookformedical.com)
  • Syndromes with somatic cell chromosome aneuploidy, e.g. (biomedcentral.com)
  • Comparison of the human with the sheep genomes by use of human chromosome-specific painting probes. (cnr.it)
  • Diagnosis of osteoporosis is currently made by bone density scan (DEXA) or when the patient experiences symptoms (fragility or compression fractures). (gertitashkomd.com)
  • Occurrence of fragility fractures. (gertitashkomd.com)
  • Holocentric chromosomes were described for the first time by Franz Schrader in 1935, who identified chromosomes with a diffuse kinetochore (or with a diffuse kinetochore activity), making these chromosomes able to bind to microtubules along their entire length rather than at a single primary constriction, as is typical of chromosomes with centromeres. (wikipedia.org)
  • Epidermolysis Bullosa is a group of inherited disorders characterized by skin fragility and multifocal skin blistering and ulcerations. (wisdompanel.com)
  • These fragile loci are targeted by the Fanconi anemia protein, FANCD2, to facilitate the resolution of under-replicated DNA, thus preventing chromosome mis-segregation and allowing cells to proliferate. (unipa.it)
  • Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. (cdc.gov)
  • At the age of 4, after being hospitalized for 2 weeks with severe undiscovered reflux we finally got a diagnosis- deletion on the long arm of chromosome 2 - 46XY del 2 (q31q32.2). (chromodisorder.org)
  • Work from our lab has shown that deletion of only one or two of the TLS polymerases had CAG fragility levels similar to those of wild-type strains, suggesting that perhaps the polymerases can compensate for one another when one or more is missing. (tufts.edu)
  • This project proposed a systematic deletion of all TLS polymerases in order to assess the role of TLS in preventing repeat fragility.Additionally, a fourth polymerase of interest, Trf4 had been previously shown to also protect against CAG repeat fragility. (tufts.edu)
  • Strikingly, the intronic deletion, which leads to a 12% reduction of the overall size of the PRKN gene body, results in an almost twofold reduction of the PRKN fragility. (ku.dk)
  • As a consequence of their diffuse kinetochores, holocentric chromosomes may stabilize chromosomal fragments created by accidental double-strand breaks, preventing loss of the fragments and favouring karyotype rearrangements. (wikipedia.org)
  • A detailed molecular analysis of the structure of holocentric chromosomes is currently available only for the nematode Caenorhabditis elegans, whereas the presence of true holokinetic nature has also been confirmed in other taxa by the evidence that experimentally induced chromosome fragments continue to attach to the spindle and segregate correctly. (wikipedia.org)
  • The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)
  • The tendency toward chromosome fragility is one of the theories that may explain chromosome variation in brocket deer species (genus Mazama). (uchile.cl)
  • Freudenreich, C. H., 2007 Chromosome fragility: molecular mechanisms and cellular consequences. (caspase1inhibitor.com)
  • A protein TRF1 that was discovered in 1995 plays a very important role in assuring the structural integrity of telomeres and protecting them from what otherwise would be fragility. (anti-agingfirewalls.com)
  • Therefore, each time a cell divides, the telomeres capping its chromosomes get shorter. (aminoco.com)
  • Comparative FISH mapping of bovid X chromosomes reveals homologies and divergences between the subfamilies bovinae and caprinae. (cnr.it)
  • X-linked hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets are the result of mutations in PHEX (a phosphate-regulating gene with homologies to endopeptidases on the X chromosome) and dentin matrix protein 1 ( DMP1 ), respectively. (medscape.com)
  • Chromosome stability test in both cattle and river buffaloes exposed to dioxin. (cnr.it)
  • Dr. Andre Nussenzweig, chief, Laboratory of Genome Integrity, National Cancer Institute, "For making seminal discoveries that speak to how cells maintain their own genome stability, allow chromosome fragility, and license leukemogenesis at the hands of aberrant DNA repair. (nih.gov)
  • Osteoporosis, one of the most prevalent chronic age-related bone diseases, often goes undetected until the first fragility fracture occurs, causing patient suffering and cost to health/social care services. (gertitashkomd.com)
  • Furthermore, the observation that subjects with osteopenia also showed a significant increase in cathepsin Z mRNA compared to non-osteoporotic controls, strongly suggests that if replicated in a larger study, the cathepsin Z mRNA in patients' PBMC preparations could form the basis of a test for osteoporosis , which could aid in the detection of osteoporosis before a critical and expensive fragility fracture occurs. (gertitashkomd.com)
  • Additionally, the manner in which chromosomes double in pairs during the foetal period varies between species. (animalonline.info)
  • They discovered that the protein EBNA1 encoded by EBV binds to specific sequences on chromosome 11 of humans. (dnagenetics.info)
  • Humans are born with 23 pairs of chromosomes, whereas canines are born with 39 pairs. (animalonline.info)
  • In humans, the 21st pair of chromosomes does not exist in dogs. (animalonline.info)
  • These findings led to the hypothesis that chromosome structure directly influences cellular phenotypes. (nature.com)
  • Chromosome analysis was performed on samples from 20 Brazilian patients with breast cancer. (uchile.cl)
  • Dr. Warren used the unusual fragility of the X chromosome in patients with fragile X as a tool to begin the search for the causative gene, a tool that he shared with the other top scientists in the fragile X field. (emory.edu)
  • Since the initial discovery of 51 fragile sites in human chromosomes almost 40 years ago, we have now identified an example of fragility induced by binding of EBNA1, the sequence-specific DNA-binding protein encoded by a virus to which almost the entire human population has been exposed. (dnagenetics.info)
  • A trait of vascular fragility, characterized by the formation of abrupt defects within the elastic laminae of the abdominal aorta, has been identified in Brown Norway (BN) rats. (mcw.edu)
  • Effectiveness of one tube osmotic fragility screening in detecting beta-thalassaemia trait. (bmj.com)
  • We found that removal of the plant telomere proteins caused rampant end-to-end joining of chromosomes and dramatic defects in plant development," explains Shippen. (anti-agingfirewalls.com)
  • As a consequence of this bone fragility, patients have an increased (~50%) risk of fracture. (medscape.com)
  • They were also able to identify the sequence on the chromosome of cells to which EBNA1 was bound. (dnagenetics.info)
  • It was a cluster of an 18 base pair sequence located on longer arm (q arm) of chromosome 11. (dnagenetics.info)
  • They were also able to identify the region ( domain ) on the protein that bound to chromosomes. (dnagenetics.info)
  • A protein encoded by EBV, called EBNA1 binds to DNA of our cells on chromosome 11q23. (dnagenetics.info)
  • Fibrous dysplasia is caused by the sporadic mutation of the GNAS1 gene, which encodes the alpha subunit of the stimulatory G protein (G1) located on chromosome 20q13.2-13.3 of the osteoblastic cells. (medscape.com)
  • Despite these differences, holocentric chromosomes present intrinsic benefits since chromosomal mutations, such as fissions and fusions, are potentially neutral in holocentric chromosomes with respect to monocentric ones. (wikipedia.org)
  • He proposed that sperm had key differences based on the sex chromosome they carried - X or Y. (medicalnewstoday.com)
  • In particular, they hypothesized that if the direction of kinetochore origin turns by 90° and occurs along the chromosome axes up to the telomeric regions, it is possible to "generate" holocentric chromosomes without any further step. (wikipedia.org)
  • Early observations revealed that individual chromosomes occupy distinct nuclear territories and, while their arrangement varies between different cell types, this structure is conserved between mother and daughter cells 2 . (nature.com)
  • Ring chromosome 14: a distinct clinical entity. (bmj.com)
  • ICF (OMIM #24242860) is a rare autosomal recessive disease that involves agammaglobulinemia or hypoglobulinemia with B cells as well as DNA rearrangements targeted to the centromere-adjacent heterochromatic region (qh) of chromosomes 1 and/or 16 (and sometimes 9) in mitogen-stimulated lymphocytes. (biomedcentral.com)
  • ZOO-FISH and R-banding reveal extensive conservation of human chromosome regions in euchromatic regions of river buffalo chromosomes. (cnr.it)
  • However, some dogs have the large features, delayed growth, and physical fragility associated with human Down syndrome. (animalonline.info)
  • Holocentric chromosomes have evolved several times during both animal and plant evolution, and are currently reported in about eight hundred diverse species, including plants, insects, arachnids, and nematodes. (wikipedia.org)
  • Before molecular methods became available, the presence of holocentric chromosomes was evaluated mostly using cytology and, considering that many species are difficult to study cytologially, it can be surmised that the true presence of holocentrism may be underestimated. (wikipedia.org)
  • The presence of holocentric chromosomes has been up till now assessed in about 800 species, including insects, plants, arachnids, and nematodes, suggesting that, in general, holocentric chromosomes probably originated by convergent evolution from ancestors possessing monocentric chromosomes. (wikipedia.org)
  • For most of the species, data about holocentrism are related to the analysis of the behaviour of chromosomes during anaphase migration since holocentric sister chromatids migrate in parallel to the spindle poles, in contrast to monocentric ones in which pulling forces are exerted on a single chromosomal point and chromosome arms trail behind. (wikipedia.org)
  • Down syndrome arises when a child is born with an extra copy of the 21st chromosome. (animalonline.info)
  • Duchenne muscular dystrophy (DMD) is caused by loss-of-function mutations in the dystrophin gene on chromosome Xp21. (cytovax.com)
  • Further analysis revealed that the chromosome 10 locus exhibits a dominant mode of inheritance, with BN alleles being associated with increased lesion number (P (mcw.edu)
  • They observed that EBNA1 bound to specific sequences on the chromosomes of these cultured cells. (dnagenetics.info)
  • The Chromosome 6 Project is a collaboration between researchers and clinicians at the University Medical Center Groningen and members of a Chromosome 6 support group on Facebook. (biomedcentral.com)
  • In addition, there are several taxa whose chromosomes are still uncharacterized, though their phylogenetic position suggests that they should have holocentric chromosomes. (wikipedia.org)
  • Fragility can affect a person very badly who maintains a sedentary lifestyle, the largest impairments include lack of strength, balance, endurance, and limited mobility. (worldhealth.net)
  • Holocentric chromosomes are also termed holokinetic, because, during cell division, the sister chromatids move apart in parallel and do not form the classical V-shaped figures typical of monocentric chromosomes. (wikipedia.org)
  • Disruption of the dystrophin-glycoprotein complex (DGC) on the cell membrane causes cytosolic Ca 2+ influx, resulting in protease activation, mitochondrial dysfunction, and progressive myofiber degeneration, leading to muscle wasting and fragility. (cytovax.com)
  • Our results stress that while the large intron clearly contributes to the fragility of PRKN, it does not play an important role for PRKN expression. (ku.dk)
  • Investigating the Role of Translesion Synthesis in the Prevention of CAG Repeat Fragility in S. cerevisiae. (tufts.edu)
  • called translesion synthesis (TLS) in suppressing repeat fragility had not yet been investigated. (tufts.edu)