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1.
Microbiol Resour Announc ; 9(27)2020 Jul 02.
Article in English | MEDLINE | ID: mdl-32616641

ABSTRACT

The draft genome sequence of wheat rhizosphere isolate Pseudomonas sp. strain SWRI103 is reported. This strain carries several gene clusters encoding nonribosomal peptide synthetases (NRPSs), including a system for cyclic lipopeptide (CLP) production, and genes for carotenoid biosynthesis.

2.
Ann Hum Genet ; 84(1): 102-106, 2020 01.
Article in English | MEDLINE | ID: mdl-31571209

ABSTRACT

Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal-recessive disorder and a distinctive type of osteopetrosis, characterized mainly by skeletal fractures and deformity, osteosclerosis, and sometimes hypotonia, developmental delay, and seizures. Sequence variants in the leucine-rich repeat kinase 1 (LRRK1) gene underlying OSMD have been reported previously. In the present study, we investigated a 14-year-old girl suspected with OSMD in a consanguineous family of Iranian origin segregating the disease in an autosomal-recessive manner. The patient had severe short stature, multiple sclerotic lesions, sandwich vertebrae, Erlenmeyer flask deformity, and looser zones. The multifocal active bony pathology suggested multifocal bony inflammation or multiple looser fractures. Whole-exome sequencing followed by Sanger sequencing confirmation revealed a novel homozygous stop gain mutation (c.G2785T, p.E929X) in the LRRK1 gene. This is the first mutation in the LRRK1 gene, underlying OSMD, in the Iranian population and the third case worldwide. The mutation is located in the C terminal of the Roc domain, distinct from domains affected in the previous two LRRK1 mutations. Additionally, a new group of clinical indications different from the two previous cases is discussed.


Subject(s)
Gain of Function Mutation , Osteochondrodysplasias/genetics , Osteosclerosis/genetics , Protein Serine-Threonine Kinases/genetics , Adolescent , Amino Acid Sequence , Codon, Nonsense , Female , Humans , Osteochondrodysplasias/pathology , Osteosclerosis/pathology , Prognosis , Sequence Homology
3.
Genome Announc ; 6(13)2018 Mar 29.
Article in English | MEDLINE | ID: mdl-29599158

ABSTRACT

The draft genome sequence of Pseudomonas gingeri LMG 5327 (NCPPB 3146), the causative agent of ginger blotch in Agaricus bisporus, is reported. Together with another mushroom pathogen, Pseudomonas agarici, it belongs to a distinct phylogenomic group.

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