Tag Archives: chromosome

Effect of exposure-age on chromosomal rearrangements in methyl isocyanate (MIC) gas exposed survivors

Exposure age and chromosome aberrations

Methyl isocyanate (MIC) gas disaster appeared one of the world’s worst industrial disasters by claiming a huge toll of human lives instantly and as its aftermath effect. Besides respiratory, ophthalmic and psychological disorders, stress leukogram, including anemia,

New insights into the cause of Prader-Willi syndrome, a rare obesity-related genetic disorder

Prader-Willi syndrome (PWS) is a complex genomic imprinting disorder caused by the loss of paternally expressed genes in the 15q11-q13 region usually due to a chromosome 15q11-q13 deletion seen in about 70 percent of those affected with

Is inversion symmetry of chromosomes a law of nature?

Chargaff has made, in 1950, the important observation that the numbers of nucleotides in DNA satisfy #A=#T and #G=#C. This played a crucial role in realizing that DNA has a two strand structure with base-pair bindings (of

Barley meiosis: The importance of sticking together

The process of crop improvement is based on promoting the exchange of genetic material by making crosses between two complementary parent plants followed by identifying progenies that perform better than the original parents. The genetic exchange occurs

How to characterize best the genetic content of small supernumerary marker chromosomes

An inborn genetic defect can be found prenatally or postnatally. The best known and most frequently observed reason for such developmental delay and/or mental retardation is Down-syndrome, also known as trisomy 21. I.e. besides the normally present

A new hypothesis of autoimmune diseases: stress and the nucleolus

Autoimmune diseases (AIDs) have complicated pathologies influenced by genetic, epigenetic and environmental factors. Mechanisms of AIDs remain mysteries but numerous hypotheses have been proposed. Several hypotheses are discussed to present their unique explanations and to demonstrate that

Chromosome gains and losses in the human brain are probably less important than previously thought

In general, each human cell contains 46 chromosomes: 23 chromosomes from each parent. Before a cell divides all chromosomes are duplicated. The cell has several mechanisms to ensure that during cell division the chromosomes are evenly distributed

Time to reflect as chromosomes loop-the-loop

Scientists are developing ever more detailed models to explain how DNA is stored inside our cells, and why it adopts the shapes it does. In a review of the latest research in the field Matthias Merkenschlager, of

22q11.2 deletion syndrome diagnosed in a young patient presenting with Parkinson disease

Chromosome 22q11.2 deletion syndrome (22q11.2DS), also called DiGeorge syndrome, is a fairly common genetic syndrome. In most cases, the diagnosis is made at birth or early in childhood as the most common features of the syndrome –

X chromosome inactivation and escape: skipping Lyon’s law causes sex differences and disease

The sex chromosomes differ between males (XY) and females (XX) in mammals. The present-day sex chromosomes evolved from a pair of look-alike progenitor chromosomes that stopped recombining once sex was determined by a gene on the Y

β-Carotene requirement for anti-aging depends on genetic background

Cellular telomere, a region of repetitive nucleotide sequences of TTAGGG, resides on both ends of chromosomes and its length is shortened by reflecting the replication number of chromosomal DNA, accordingly, telomere length is the most reliable indicator

Aberrantly methylated DNA regions in IgA Nephropathy patients affect the disease

The genome can influence the onset and the development of the diseases in several manner, and in the last years several studies have revealed the new role of the DNA methylation in this framework. The DNA methylation

Reconstruction of chromosomal structures

Under a certain approximation, the following simplified format can be adopted. DNA is considered as a very long sequence in the {A,C,T,G} alphabet. Certain regions of the sequence with specific positions have a particular role and are

Sperm DNA damage and its role in fertility

One way or another, it takes two people to make a baby.  Under normal circumstances, a sperm and an egg fuse to make an embryo however there are numerous occasions under which this process needs a little

What sex will it be? And why?

For millennia, pregnant women (and their partners) have wondered what sex the baby will be. Many parents wish for sons, especially as first-borns. Methods to achieve this have included tying off the left testicle, drinking lion’s blood,

High-Resolution chromosome ideogram representation of recognized genes for autism spectrum disorders

Classical autism which is termed as an autistic disorder belongs to the autism spectrum disorders (ASD). Autism was first coined in 1943 by Dr. Kanner. Individuals with ASD may be diagnosed as early as three years of

CML – where do we stand in 2015?

The progress with CML‐treatment continues at a rapid pace. Treatment of choice is targeted therapy with tyrosine kinase inhibitors (TKI). Five‐year survival ranges around 91% and 10‐year survival around 84% up from 11% with Busulfan 30 years ago. More

NEIL2 repairs DNA damage within active genes, maintains chromosome end integrity, prevents inflammation

Mammalian cells are subjected to a plethora of exogenous and endogenous agents that cause damage to the cellular DNA. One of the major sources of such damage is oxygen-derived molecules and free radicals, collectively termed “Reactive Oxygen

Producing recombinant proteins for human use

Chinese Hamster Ovary (CHO) cell lines are the most frequently used cell lines in the biopharmaceutical industry for the production of therapeutic recombinant proteins, because they can be easily genetically manipulated, grow quickly, can be easily adapted