ABSTRACT
A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3' breakpoint region magnified.
Subject(s)
Gene Duplication , Karyotype , Regulatory Sequences, Nucleic Acid , SOX9 Transcription Factor/genetics , Sexual Development/genetics , Testicular Diseases/diagnosis , Testicular Diseases/genetics , Adolescent , Biomarkers , Genetic Association Studies , Humans , Male , Organ Specificity/genetics , PhenotypeABSTRACT
17Beta-hydroxysteroid dehydrogenase type 1 (HSD17B1) is a key enzyme of 17beta-estradiol biosynthesis, and in rodents is additionally involved in testosterone biosynthesis. The human HSD17B1 gene, located on chromosome 17q12-21, is duplicated in tandem, with the 3'-copy being the functional gene. Here we show by sequencing the gene from a diverse set of related species that this duplication is of very recent evolutionary origin, having occurred in the common ancestor of Hominoidae (apes and humans) while being absent in the closely related Old World monkeys (Macaca) and the outgroup species Tupaia belangeri and Mus musculus. By computational analysis of the conserved regulatory elements in the 5'-untranslated (5'-UTR) and putative promoter region of the HSD17B1 gene and, where present, pseudogene, across our broad sample of species we can show significant differences that might point to the origin of the divergent substrate specificity of human and rodent HSD17B1 and highlight potential functionally relevant differences in regulatory patterns in different evolutionary lineages.
Subject(s)
Computational Biology , Estradiol Dehydrogenases/genetics , Gene Duplication , Gene Expression Regulation, Enzymologic , 5' Untranslated Regions/genetics , Animals , Base Sequence , Chromosomes, Human, Pair 17/genetics , Conserved Sequence , Humans , Mice , Molecular Sequence Data , Promoter Regions, Genetic/geneticsABSTRACT
The analysis of Serratia liquefaciens MG1 'luxAB insertion mutants that are responsive to N-butanoyl-L-homoserine lactone revealed that expression of lipB is controlled by the swr quorum-sensing system. LipB is part of the Lip exporter, a type I secretion system, which is responsible for the secretion of extracellular lipase, metalloprotease, and S-layer protein.
