DNA sequence and analysis of human chromosome 18

Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements.     

A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig

Most traits and disorders have a multifactorial background indicating that they are controlled by environmental factors as well as an unknown number of quantitative trait loci (QTLs). The identification of mutations underlying QTLs is a challenge because each locus explains only a fraction of the phenotypic variation. A paternally expressed QTL affecting muscle growth, fat deposition and size of the heart in pigs maps to the IGF2 (insulin-like growth factor 2) region. Here we show that this QTL is caused by a nucleotide substitution in intron 3 of IGF2. The mutation occurs in an evolutionarily conserved CpG island that is hypomethylated in skeletal muscle. The mutation abrogates in vitro interaction with a nuclear factor, probably a repressor, and pigs inheriting the mutation from their sire have a threefold increase in IGF2 messenger RNA expression in postnatal muscle. Our study establishes a causal relationship between a single-base-pair substitution in a non-coding region and a QTL effect. The result supports the long-held view that regulatory mutations are important for controlling phenotypic variation.     

Epithelial supporting cells can differentiate into outer hair cells and Deiters' cells in the cultured organ of Corti

The organ of Corti is a complex structure containing a single row of inner hair cells (IHCs) and three rows of outer hair cells (OHCs), supported respectively by one row of inner phalangeal cells and three rows of Deiters' cells. When fetal rat organ of Corti explants are cultured, supernumerary OHCs and supernumerary Deiters' cells are produced, without any additional cell proliferation. Analysis of semi- and ultrathin sections revealed that supernumerary OHCs are produced at the distal edge of the organ of Corti. Quantitative analysis of cell types present in the organ of Corti demonstrates that when the number of OHCs increases: (i) the total number of cells remains constant; (ii) the number of Deiters' cells increases; (iii) the number of tectal cells decreases and of Hensen's cells decreases. Using specific HC markers, i.e. jagged2 (Jag2) and Math1, we showed that in addition to existing OHCs, supernumerary OHCs, tectal cells and Hensen's cells expressed these markers in embryonic day 19 organ of Corti explants after 5 days in vitro. The results of this study suggest that Hensen's cells retain the capacity to differentiate into either tectal cells, which differentiate into OHCs, or into undertectal cells which differentiate into Deiters' cells. Received 15 May 2002; received after revision 18 July 2002; accepted 7 August 2002 RID="*" ID="*"Corresponding author.     

Oncogenic properties of PPM1D located within a breast cancer amplification epicenter at 17q23

We found that PPM1D, encoding a serine/threonine protein phosphatase, lies within an epicenter of the region at 17q23 that is amplified in breast cancer. We show that overexpression of this gene confers two oncogenic phenotypes on cells in culture: attenuation of apoptosis induced by serum starvation and transformation of primary cells in cooperation with RAS.     

Spectrum of Aeromonas and Plesiomonas infections in patients with cancer and AIDS

The spectrum of infection with Aeromonas and Plesiomonas included gastroenteritis, bacteremia, biliary tract infection, perirectal infection, and disseminated disease. Most patients (86%) with bacteremia were neutropenic (less than 500 PMN/mm3). Colonization of stools and sputum also occurred. Therapy with aminoglycosides, beta-lactams, trimethoprim/sulfamethoxazole, and the newer quinolones was effective in patients with AIDS and cancer.     

Progesterone receptors in the foetal uterus of guinea-pig: its stimulation after oestradiol treatment.

This paper shows for the first time the presence of progesterone receptors in the foetal guinea-pig uterus, as well as the stimulation of progesterone receptors in foetal uterus in animals treated with oestradiol.     

Homeostatic and innate immune responses: role of the transmembrane glycoprotein CD98

The transmembrane glycoprotein CD98 is a potential regulator of multiple functions, including integrin signaling and amino acid transport. Abnormal expression or function of CD98 and disruption of the interactions between CD98 and its binding partners result in defects in cell homeostasis and immune responses. Indeed, expression of CD98 has been correlated with diseases such as inflammation and tumor metastasis. Modulation of CD98 expression and/or function therefore represents a promising therapeutic strategy for the treatment and prevention of such pathologies. Herein, we review the role of CD98 with focus on its functional importance in homeostasis and immune responses, which could help to better understand the pathogenesis of CD98-associated diseases.     

A new species of Kurixalus (Anura: Rhacophoridae) from northern Vietnam with comments on the biogeography of the genus

ABSTRACT

We describe a new species of rhacophorid frogs from Nghe An Province in northern Vietnam based on morphological and molecular evidences. Morphologically, Kurixalus gracilloides sp. nov. is distinguished from its congeners by a combination of the following diagnostic characters: body size small (snout–vent length 27.9–31.2 mm in males); head width subequal to head length; snout rounded with no dermal projection; canthus rostralis distinct, curved; vomerine teeth present; single internal vocal sac; iris golden-brown; small nuptial pad in finger I; dorsal surfaces golden-brown with a saddle-shaped dark marking; large dark spots on ventral surfaces absent; dermal fringes along outer edge of limbs; conical dermal appendage at the heel; skin on dorsum rough; skin on throat and chest granular; finger webbing rudimentary and toe webbing moderately developed, webbing formula I 2–2½ II 1½–3 III 1¾–3½ IV 3–1½ V. The new species is separated from all other congeners by uncorrected genetic distances ranging from 5.4% to 12.7% based on mitochondrial 16S rRNA gene. Phylogenetic analyses of mtDNA suggest that the new species is nested within a clade of Taiwanese and Yunnan Kurixalus with strong support values. The new species is currently known only from secondary bamboo forest in Pu Mat National Park, northern Vietnam, at elevations of 150 m asl. We suggest the new species should be considered as Near Threatened (NT) following the IUCN’s Red List categories.

http://www.zoobank.org/urn:lsid:zoobank.org:pub:C1BF843F-2F31-4CED-B1F9-13A9035C77C9