Skip to search formSkip to main contentSkip to account menu

A new bacteriophage P1–derived vector for the propagation of large human DNA fragments

TLDR
It is concluded that the PAC cloning system will be useful in the mapping and detailed analysis of complex genomes.
View on Nature (opens in a new tab)

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

TLDR
Findings suggest a fundamental role of the autophagy pathway in the immune system and the anatomical and functional formation of organs such as the brain and heart in individuals with mutant EPG5.
View on Nature (opens in a new tab)

Maternal methylation imprints on human chromosome 15 are established during or after fertilization

TLDR
It is reported that sperm DNA from two males with an IC deletion had a normal paternal methylation pattern along 15q11–q13, and CpG-rich regions in SNURF-SNRPN and NDN, which in somatic tissues are methylated on the maternal allele, are hypomethylated in unfertilized human oocytes.
View on Springer (opens in a new tab)

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

TLDR
The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.
View on Nature (opens in a new tab)

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

TLDR
It is proposed that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
View on Nature (opens in a new tab)

Human Chromosome 7: DNA Sequence and Biology

TLDR
Additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease.
View on Publisher (opens in a new tab)

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

TLDR
The analysis of eight unbalanced translocations that, depending on the parental origin of the rearranged chromosome, were associated with either Prader–Willi or Angelman syndrome shows that the breakpoints for other rearrangements including large inv dup (15) chromosomes do not map to BP6, suggesting that it is specific to translocations.
View on Nature (opens in a new tab)

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

View on PubMed (opens in a new tab)

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

TLDR
Findings indicate that Auriculocondylar syndrome is not only genetically heterogeneous but also an autosomal dominant or recessive condition according to the nature of the PLCB4 gene lesion.
View on Publisher (opens in a new tab)

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

TLDR
A recently proposed association of intragenic GLI3 mutations with metopic synostosis is extended and confirmed, and the three individuals with complete deletion ofGLI3 were previously considered to have Carpenter syndrome are highlighted, highlighting an important source of diagnostic confusion.
View on Nature (opens in a new tab)
...
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)