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Characterization of Missing Human Genome Sequences and Copy-number Polymorphic Insertions
A method to accurately genotype these new insertions by mapping next-generation sequencing datasets to the breakpoint is developed, thereby providing a means to characterize copy-number status for regions previously inaccessible to single-nucleotide polymorphism microarrays.
Legionella pneumophila Secretes a Mitochondrial Carrier Protein during Infection
A novel MCF member, termed Legionella nucleotide carrier Protein (LncP), was discovered encoded in the genome of Legionella pneumophila, the causative agent of Legionnaire's disease, andstrate transport studies on purified LncP reconstituted in liposomes revealed that it catalyzes unidirectional transport and exchange of ATP transport across membranes, thereby supporting a role for LncF as an ATP transporter.
α-Isopropylmalate, a Leucine Biosynthesis Intermediate in Yeast, Is Transported by the Mitochondrial Oxalacetate Carrier*
- C. M. Marobbio, G. Giannuzzi, Eleonora Paradies, C. L. Pierri, F. Palmieri
- Biology, MedicineJournal of Biological Chemistry
- 17 October 2008
Recombinant and reconstituted mitochondrial oxal acetate carrier (Oac1p) efficiently transported α-IPM in addition to its known substrates oxalacetate, sulfate, and malonate and in contrast to other di- and tricarboxylate transporters as well as the previously proposed α- IPM transporter.
Inter-varietal structural variation in grapevine genomes.
- M. Cardone, P. D’Addabbo, +9 authors D. Antonacci
- Biology, MedicineThe Plant journal : for cell and molecular…
- 1 November 2016
An inter-varietal atlas of structural variations and single nucleotide variants for the grapevine genome analyzing four economically and genetically relevant table grapevine varieties is created.
Chromatin three-dimensional interactions mediate genetic effects on gene expression
This work suggests that three-dimensional (3D) organization in cis can be broadly categorized into functionally linked and unlinked domains, with the most-linked ones corresponding to CRDs.
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
The duplicative transposition of BOLA2 at the root of the H. sapiens lineage simultaneously increased copy number of a gene associated with iron homeostasis and predisposed the authors' species to recurrent rearrangements associated with disease.
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
SLC25A12 sequencing should be considered in children with infantile epilepsy, congenital hypotonia, global delay, abnormal myelination, and reduced brain NAA, as results of WES and functional validation in a consanguineous Indian kindred strongly suggest.
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
- E. Migliavacca, C. Golzio, +18 authors A. Reymond
- Biology, MedicineAmerican journal of human genetics
- 7 May 2015
The transcriptome of individuals carrying reciprocal 16p11.2 CNVs is interrogated to suggest that dysregulation of ciliopathy genes contributes to the clinical phenotypes of these CNVs, and structural ciliary defects in the CA1 hippocampal region of 16p 11.2 duplication mice are found.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
The results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes and identify cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes.
New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset.
- A. Cellamare, C. Catacchio, +8 authors M. Ventura
- Medicine, BiologyMolecular biology and evolution
- 1 August 2009
The results suggest radical differences in the structure, organization, and evolution of alpha-satellite DNA among different primate species, supporting the notion that all the centromeric sequence in Primates evolved by genomic amplification, unequal crossover, and sequence homogenization using a 171 bp monomer as the basic seeding unit.