Whole-genome sequencing of quartet families with autism spectrum disorder
... the samples were karyotyped and screened for fragile X mutations20. We excluded families from the study if either of the affected siblings had chromosomal abnormalities or a fragile X mutation. .... Ten of these shared mutations were inherited, but ...
Nature.com - Mon, 26 Jan 2015 09:37

Gene appears to “skew” production of helper T cells
Encoded by Jmjd3, the enzyme Jmjd3 is one of dozens of histone demethylases that shapes chromosome architecture and indirectly affects whether genes can be expressed. Led by Houston Methodist Research Institute Center for Inflammation and ... "Our ...
HealthCanal.com - Tue, 27 Jan 2015 12:03

Junk DNA and the long non-coding RNA twist in cancer genetics
This notion can be exemplified and supported by the role played by miRNA-15a/16-1 in chronic lymphocytic leukemia (CLL).22 A recurring pattern of 13q14.3 deletions was observed in CLL indicative of the presence of a tumor suppressor in this region ...
Nature.com - Mon, 26 Jan 2015 03:34

KLHL39 suppresses colon cancer metastasis by blocking KLHL20-mediated ...
Consistent with this notion, overexpression of KLHL39 blocked PML-I ubiquitination induced by Roc1-Cul3-KLHL20 E3 ligase complex, and this effect of KLHL39 was abolished by deletion of the kelch-repeat domain (Figure 3a). Similar effect was observed ...
Nature.com - Mon, 26 Jan 2015 03:34

What Non-Invasive Prenatal Testing screens for
These tiny missing pieces of DNA at the sub-chromosomal level can have serious health implications. Some NIPT tests screen for the most common and severe microdeletion syndromes, such as 22q11.2 deletion syndrome (also known as DiGeorge ...
South China Morning Post (subscription) - Sun, 18 Jan 2015 13:56

Epstein–Barr virus-positive T/NK-cell lymphoproliferative disorders
Latent infection is characterized by the absence of infectious virus production and integration into host cell chromosomes via replication of the viral genome, whereas lytic infection occurs when the virus produces a large number of functional and ...
Nature.com - Thu, 22 Jan 2015 23:54

Epstein–Barr virus latent genes
An almost inseparable dimerization domain (DD) and oriP DNA-binding domain (a.a. 459–607) bind specifically to EBV oriP, an enhancer of the transcription and origin of viral genome replication, and thereby brings to chromosomes. The dimerization ...
Nature.com - Thu, 22 Jan 2015 23:53



A “null” gene and one that is just a little inactive are the recipe for scoliosis
In a study of at least three groups of people born with scoliosis and a specific deletion of genetic material on chromosome 16 and intense studies of the genomes of two patients and their parents, the researchers led by Dr. Feng Zhang, professor of ...
Baylor College of Medicine News (press release) - Thu, 08 Jan 2015 07:00

CNV Analysis Unearths Compound Gene Mutations Behind Congenital Scoliosis
GenomeWeb - Thu, 08 Jan 2015 07:00


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