Richard Quinton

Newcastle University; Newcastle upon Tyne, United Kingdom

Maccoll GS et al. (2010) Front Horm Res "Biology of KAL1 and its orthologs: implications for X-linked Kallmann syndrome and the search for novel candidate genes."

MacColl GS, Quinton R, Bulow HE

[Front Horm Res, 2010]

Kallmann syndrome is characterised by congenital hypogonadotropic hypogonadism and anosmia, sometimes with other non-reproductive defects. Although multiple genetic pathways are now known to be involved in the development of this disorder, KAL1, the gene causing the X-linked form of Kallmann syndrome was the first to be identified. It has thus been extensively studied both in vitro and in vivo, though the absence of an identifiable murine ortholog has denied researchers the opportunity to create and study Kal-1 knock-out mice. This review looks at several studies in species with a kal-1 ortholog, revealing functional similarities with the human disorder. Further work has shown that the kal-1 domain structure is maintained across genera, that it controls similar morphological and cellular processes during development, and that data from the nematode Caenorhabditis elegans, in particular, may point to novel human candidate genes.

MacColl G et al. (2002) Neuron "Kallmann syndrome: adhesion, afferents, and anosmia."

MacColl G, Bouloux P, Quinton R

[Neuron, 2002]

Three new studies into the function of human anosmin-1 and related proteins in C. elegans and rodents show that these influence axon branching and axon targeting. The rodent anosmin appears to work at two stages of development, initially promoting axon outgrowth from the olfactory bulb and then stimulating branching from axons into the olfactory cortex. CeKal-1 further influences morphogenesis, and, as the human and nematode anosmins are functionally conserved, these studies provide insights into the pathogenesis of Kallmann syndrome (KS).

(R,R)-butanediol dehydrogenase activity

Catalysis of the reversible reaction: (R,R)-butane-2,3-diol + NAD+ = (R)-acetoin + NADH + H+.

Galindo-Malagn XA et al. (2022) Zootaxa "New species, synonymies and records in the genus Rhagovelia Mayr, 1865 (Hemiptera: Heteroptera: Veliidae) from Colombia."

Moreira FFF, Morales I, Mondragn-F SP, Galindo-Malagn XA

[Zootaxa, 2022]

Rhagovelia medinae sp. nov., of the hambletoni group (angustipes complex), and R. utria sp. nov., of the hirtipes group (robusta complex), are described, illustrated, and compared with similar congeners. Based on the examination of type specimens, six new synonymies are proposed: R. elegans Uhler, 1894 = R. pediformis Padilla-Gil, 2010, syn. nov.; R. cauca Polhemus, 1997 = R. azulita Padilla-Gil, 2009, syn. nov., R. huila Padilla-Gil, 2009, syn. nov., R. oporapa Padilla-Gil, 2009, syn. nov, R. quilichaensis Padilla-Gil, 2011, syn. nov.; and R. gaigei, Drake Hussey, 1947 = R. victoria Padilla-Gil, 2012 syn. nov. The first record from Colombia is presented for R. trailii (White, 1879), and the distributions of the following species are extended in the country: R. cali Polhemus, 1997, R. castanea Gould, 1931, R. cauca Polhemus, 1997, R. gaigei Drake Hussey, 1957, R. elegans Uhler, 1894, R. femoralis Champion, 1898, R. malkini Polhemus, 1997, R. perija Polhemus, 1997, R. sinuata Gould, 1931, R. venezuelana Polhemus, 1997, R. williamsi Gould, 1931, and R. zeteki Drake, 1953.

hydroxybutyrate-dimer hydrolase activity

Catalysis of the reaction: (R)-3-[(R)-3-hydroxybutanoyloxy]butanoate + H2O = 2 (R)-3-hydroxybutanoate + H+.

thiol oxidase activity

Catalysis of the reaction: 2 R'C(R)SH + O2 = R'C(R)S-S(R)CR' + 2 H2O2.

aliphatic nitrilase activity

Catalysis of the reaction: R-CN + H2O = R-COOH + NH3.

carnitinamidase activity

Catalysis of the reaction: (R)-carnitinamide + H2O = (R)-carnitine + NH4.

pantetheine hydrolase activity

Catalysis of the reaction: (R)-pantetheine + H2O = (R)-pantothenate + cysteamine.