Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown. We report here a novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases. Twinkle colocalizes with mtDNA in mitochondrial nucleoids. Screening of the gene encoding Twinkle in individuals with autosomal dominant progressive external ophthalmoplegia (adPEO), associated with multiple mtDNA deletions, identified 11 different coding-region mutations co-segregating with the disorder in 12 adPEO pedigrees of various ethnic origins. The mutations cluster in a region of the protein proposed to be involved in subunit interactions. The function of Twinkle is inferred to be critical for lifetime maintenance of human mtDNA integrity.     

A revision of the species of the Neoserica (sensu lato) vulpes group (Coleoptera: Scarabaeidae: Sericini)

This paper revises the species belonging to the Neoserica (sensu lato) vulpes group and results in one new combination, Neoserica (sensu lato) vulpes (Arrow, 1946) comb. nov., and 24 new species originating mainly from south-western China: N. baishuiensis sp. nov., N. baoshana sp. nov., N. biuncinata sp. nov., N. dundai sp. nov., N. ganhaiziana sp. nov., N. heishuiana sp. nov., N. kereni sp. nov., N. laocaiana sp. nov., N. lateriuncinata sp. nov., N. leiboensis sp. nov., N. luzhouana sp. nov., N. ningyuanensis sp. nov., N. nykli sp. nov., N. parausta sp. nov., N. pseudovulpes sp. nov., N. rubellula sp. nov., N. ruzickai sp. nov., N. shinkaisiensis sp. nov., N. sichuanica sp. nov., N. usta sp. nov., N. weishanensis sp. nov., N. xiaguanensis sp. nov., N. kunmingensis sp. nov. and N. yangjiapingensis sp. nov. A key to species and illustrations of genitalia and habitus of adults are given, including distribution maps of all species.

http://zoobank.org/urn:lsid:zoobank.org:pub:3FE6CC54-DB3A-4201-A6F9-332E4A397268     

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.