Publications associées à Chromosome 3 humain

Computational identification and experimental characterization of preferred downstream positions in human core promoters

Author summary Transcription of genes by the RNA polymerase II enzyme initiates at a genomic region termed the core promoter. The core promoter is a regulatory region that may contain diverse short DNA sequence motifs/elements that confer specific properti ...

2021

Highly Reduced Genome of the New Species Mycobacterium uberis, the Causative Agent of Nodular Thelitis and Tuberculoid Scrotitis in Livestock and a Close Relative of the Leprosy Bacilli

Stewart Cole, Andrej Benjak, Charlotte Avanzi

Nodular thelitis is a chronic enzootic infection affecting dairy cows and goats. The causative agent was recently shown to be related to the leprosy-causing bacilli Mycobacterium leprae and Mycobacterium lepromatosis. In this study, the genome of this path ...

AMER SOC MICROBIOLOGY2018

Olfactory receptor pseudo-pseudogenes

Matteo Dal Peraro, Benoîte Bargeton

Pseudogenes are generally considered to be non-functional DNA sequences that arise through nonsense or frame-shift mutations of protein-coding genes(1). Although certain pseudogene-derived RNAs have regulatory roles(2), and some pseudogene fragments are tr ...

Nature Publishing Group2016

The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

Jacques Fellay, Amalio Telenti, Istvan Bartha, Nimisha Chaturvedi, Paul Jack Mc Laren

Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function. We a ...

Public Library Science2015

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

Purpose: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss ...

Molecular Vision2013

Inferring transcript phylogenies

Yann Christinat, Bernard Moret

Alternative splicing, an unknown mechanism 20 years ago, is now recognized as a major mechanism for proteome and transcriptome diversity, particularly in mammals-some researchers conjecture that up to 90% of human genes are alternatively spliced. Despite m ...

IEEE Press2011

Genetic characterization of CHO production host DG44 and derivative recombinant cell lines

Florian Maria Wurm, David Hacker, Madiha Derouazi, Martin Bertschinger

The dihydrofolate reductase-deficient Chinese hamster ovary (CHO) cell line DG44 is the dominant mammalian host for recombinant protein manufacturing, in large part because of the availability of a well-characterized genetic selection and amplification sys ...

2006