TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tiina Paunio on työryhmän UK10K jäsen.The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.Peer reviewe

Hemiandrus

Key to Fiordland Hemiandrus Most adults and late-instar nymphs are readily identifiable by color pattern, and Figure 6 provides a basis for this method. The following key makes use of specific structural and color characters: 1. Dorsal metatibial spines very slender, well separated, equal- or shorter than protibial and mesotibial spines........................................................................................................................................................... 2 - Dorsal metatibial spines stout, connected by basal webbing, and distinctly larger than protibial and mesotibial spines......................................................................................................... "Esperance Valley" 2. Maxillary palp: 3 rd segment glabous or setose, but not pilose................................................................... 3 - Maxillary palp: 3 rd segment pilose across distal 20–40 %......................................................................... 6 3. Frons smooth or microsculptured; adults not exceeding 33mm; ventral surfaces of tarsi white or cream 4 - Frons rugose; adults 35–45mm; ventral surfaces of tarsi grey.............................................. superba n. sp. 4. 4 th protarsal segment densely setose on distal 5 %, cream above; ventral spines on metatibiae absent or minute, in linear series of 4, cream or dark brown; pronotum brown and/or black................................... 5 - 4 th protarsal segment densely setose on distal 20 %, dark brown above; ventral spines on metatibiae prominent, in a linear series of 3, white; pronotum red with some black.................................. nitaweta n. sp. 5. Ventral spines on metatibiae (if present) in linear series of 4; pronotum predominantly black; maxillary palp: 4 th segment pilose on distal 55–60 %......................................................................................... focalis - Ventral spines on metatibiae in linear series of 5; pronotum predominantly brown; maxillary palp: 4 th segment pilose on distal 40 %........................................................................................ "HunterMountains" 6. 4 th metatarsal segment densely setose across entire dorsal surface; metafemorae usually with distinctive grey or light brown spots............................................................................................................................ 7 - 4 th metatarsal segment densely setose only on distal 20 % of dorsal surface; metafemorae lack spots............................................................................................................................................................... fiordensis 7. Adults 20mm; midline of pronotum uniform or speckled; frons black; female: posterior margin of 9 th tergite straight.................................................................................................................. "madisylvestris"Published as part of Jewell, Tony, 2007, Two new species of Hemiandrus (Orthoptera: Anostostomatidae) from Fiordland National Park, New Zealand, pp. 49-57 in Zootaxa 1542 on pages 56-57, DOI: 10.5281/zenodo.17789

Hemiandrus superba Jewell, 2007, n. sp.

Hemiandrus superba n. sp. (Figs. 2–3; 6 D) Diagnosis. An exceptionally large (35–45mm), heavy-bodied and colorful Hemiandrus with the following combination of traits: 3 rd segment of maxillary palp lacks pilosity, 4 th segment pilose on distal 55 %; 4 th tarsal segment setose on distal 5 %; 24–26 antennomeres; frons rugose; pronotum grey with large rusty-red dorsal patch and cream margins; abdomen strongly banded with black and cream-grey. Most similar to H. focalis which differs by its smaller size (<34mm), frons only very weakly rugose, and pronotum black with cream margins. Description. Size. Adult female 43–45mm (n = 2), adult male 35–37mm (n = 2), penultimate instar male 33.7–34mm (n = 2). Head. Frons rugose, otherwise head shiny but microsculptured, rusty-red except margin adjacent to pronotum black, labrum black, mandibles with some black on inner margins, and ventral surfaces cream; palps cream; antennae longer than body, uniform light brown except pedistal with dark brown shadings and scutellum sometimes rusty-red, 24–26 antennomeres; eyes black; 5 th segment of maxillary palp 100 % pilose, 4 th segment 55 % pilose, remainder of 4 th segment and segments 1–3 with widely spaced setae. Thorax. Pronotum shiny but microsculptured; slightly broader than long (ratio: 1.34); margins cream, remain- der light grey with a large rusty-red dorsal patch. Meso- and metanotum shiny and with microsculpturing on posterior margins, black with posterior and lateral margins cream. Sternum ranging from cream with dark brown shadings through to predominantly dark brown. Legs. Relatively short (hind tibia 1.5–1.6 x head width). Coxae and trochanters cream. Femorae yellow-cream at base merging gradually with orange-red and rusty-red; lacking spines. All tibiae cream with dark grey basal patch. Protibiae with cream articulated spines arranged in asymmetrical form, as follows: 4 apicals; 1 positioned medially on pro-dorso-lateral angle; none on retro-dorso-lateral angle; 4 spaced evenly along proventro-lateral angle; 4 spaced evenly along retro-ventrolateral angle. Mesotibiae with cream articulated spines arranged in asymmetrical form as follows: 4 apicals; 2 spaced evenly across lower 2 / 3 of prodorso-lateral angle; 3 spaced evenly across retrodorso-lateral angle; 4 spaced evenly along retro-ventrolateral angle; 4 spaced evenly along pro-ventrolateral angle. Metatibiae with cream spines arranged as follows: 4 articulated apicals; 2 very large articulated subapicals on pro- and retrodorso-lateral angles; 7–8 fixed spines evenly spaced along prodorso-lateral angle; 8–9 fixed spines evenly spaced along retrodorso-lateral angle; 4–5 asymmetrical pairs of minute articulated ventrals with the basalmost retro spine and distal-most pro spine often absent. Tarsal segments 1–2 cream above, segments 3–4 grey above; tarsi 4 -segmented, 1 st segment with protruding foot-pad divided into two, 2 nd and 3 rd segments each with a single protruding foot pad, 4 th segment with non-protruding footpad and on pro- and mesotarsi is as long as first 3 segments combined, but on metatarsi the 1 st segment is also elongated, of similar length to 4 th, all ventral footpads grey; tarsi densely setose only on distal 5 % of 4 th segment. Abdomen. Shiny; tergi 1–9 black with broad posterior border of light grey and/or cream, cerci cream, sometimes with dark shadings, sternites cream to light orange with black anterior margins, pleural membrane cream. Female. Ovipositor yellow at base, becoming deep rusty-red, 0.5 x body length; cerci elongate, tapering, rugose, baring dense short setae and sparse very long setae, except for tip which is bare and almost smooth; posterior margins of tergi 1–10 simple, posterior margins of sternites 1–5 and 7 simple, sternite 6 with broad but weak median depression, subgenital plate triangular and apex with a short hard spine. Male. Tergite 9 expanded medially to form a broad protruding lobe; tergite 10 with a pair of short black, blunt spines, and the posterior margin of tergite 9 has a slight inward depression behind each of these to accommodate them. Cerci as for female except long setae restricted to basal quarter, and tips pilose. Nymphs. Penultimate instar colored as for adult; earlier nymph stages not available for this study. Type data. HOLOTYPE: adult female (43mm), Sinbad Gully, Fiordland National Park, New Zealand, 1200m a.s.l., NZMS 260 D 40 20982 56051, March 2007, Tony Jewell. PARATYPES: 1 adult female, 2 adult males, 2 penultimate instar male nymphs, same collection data as Holotype. Additional material examined. 1 adult female examined from photographs taken at the Type locality in March 2004. All material examined here is from the Type locality at 1100–1200m a.s.l., however in March 2004 several specimens were also observed at 1500m a.s.l. atop a vertical rock wall that borders the Type locality. Etymology. The name is derived from the adjective superb (‘impressive in size or appearance’) in reference to the large size and bright coloration of the species. Distribution. So far known only from the head of the Sinbad Gully in northern Fiordland (44 ° 38 ' S, 167 ° 48 ' E), between 1100–1500m a.s.l. Natural history. Inhabits rocky alpine grasslands/herbfields in a cool, wet climate (rain and snow precipitation est. 10,000 +mm p.a. + waterfall mist). Nocturnal, most active on damp cloudy nights. By day occupies tunnels in the ground which are often excavated beneath rocks and are thus uncovered when the rock is lifted. At the lower end of its altitudinal range H. superba is sympatric with H. maculifrons and H. nitaweta. Comments. At 35–45mm (v. 12–33 mm) in length Hemiandrus superba is distinctly larger than its known congeners. In this respect it is more comparable with New Zealand’s other two widespread Anostostomatid genera, i.e. the tree weta (genus Hemideina Walker) and giant weta (genus Deinacrida White), most of which are about 40–50mm (e.g. Gibbs, 1999). However, an absence of protibial ear drums and the minute size of the dorsal metatibial spines each provide ready distinction from the members of these genera and support the status of H. superba as an otherwise typical Hemiandrus. The relationships of H. superba are unresolved but tentative comparison can be drawn with H. focalis (Fig. 6 B) and its undescribed relatives. H. focalis is the next-largest species at up to 33mm (pers. obs.) and the general patterns of color, spines and of setae are not dissimilar. Hemiandrus nitaweta n. sp. (Figs. 4–5; 6 C) Diagnosis. A large (31mm), brightly colored Hemiandrus with the following combination of traits: ovipositor half as long as body; 3 rd segment of maxillary palp lacks pilosity, 4 th segment pilose on distal 45 %; 4 th metatarsal segment setose on distal 5 %; frons smooth; 17–18 antennomeres; colored black with red tibiae except pronotum red with black margins, and thin vertical white stripes on the sides of the abdomen. Most similar to H. fiordensis which differs by having 4 th segment of maxillary palp 100 % pilose and 3 rd segment 33 % pilose, 4 th metatarsal segment setose on distal 20 %, and pronotum coloration brown to orange-brown. Description. Size. Adult female 31mm (n = 1), penultimate instar female 27mm (n = 1). Head. Shiny, predominantly black but frons partially or fully red, clypeus white, mandibles with some red, and ventral surfaces white; palps white to light grey; antennae longer than body, flagellum segments alternating (as singles or pairs) brown and cream, pedistal cream, scape cream with dark brown shadings, 17–18 antennomeres; eyes black; 5 th segment of maxillary palp 100 % pilose, 4 th segment 45 % pilose, remainder of 4 th segment and segments 1–3 glabous. Thorax. Pronotum shiny, bright red with black margins and black sometimes also extending along midline; slightly broader than long (ratio: 1.17). Meso- and metanotum shiny, black with a small whitish patch near each anterior corner. Sternum dark brown. Legs. Of moderate length (hind tibia 2.0– 2.1 x head width). Coxae white with restricted dark brown patches; trochanters white. Pro- and mesofemorae white with expansive orange-red shadings and distally dark brown shadings; lacking spines. Metafemorae orangered with dark brown shading at apex. Protibiae dark brown with white articulated spines arranged in weakly symmetrical form, as follows: 4 apicals; 1 positioned medially on prodorso-lateral angle; none on retrodorsolateral angle; 4 spaced evenly along proventro-lateral angle; 4 spaced evenly along retroventro-lateral angle. Mesotibiae dark brown with white articulated spines arranged in weakly symmetrical form as follows: 4 apicals; 2 spaced evenly across lower 2 / 3 of prodorso-lateral angle; 3 spaced evenly across retrodorso-lateral angle; 4 spaced evenly along proventro-lateral angle; 4 spaced evenly along retroventro-lateral angle. Metatibiae blackish-brown dorsally, becoming orange-red on ventral and sometimes lateral surfaces; with white spines arranged as follows: 4 articulated apicals; 2 very large articulated subapicals on pro- and retrodorsallateral angles; 7 fixed spines evenly spaced along prodorso-lateral angle; 6 or 7 fixed spines evenly spaced along retrodorso-lateral angle; 3 articulated, evenly spaced ventrals, sometimes with a 4 th paired beside the basal-most of these. Tarsi dark brown above, whitish below; 4 -segmented, 1 st segment with large protruding foot-pad divided into two, 2 nd and 3 rd segments each with a single large protruding foot pad, 4 th segment with non-protruding footpad; 1 st segment on pro- and mesotarsi is as long as first 3 segments combined, but on metatarsi the 1 st segment is also elongated, of similar length to 4 th segment; protarsi densely setose only on distal 20 % of 4 th segment, and likewise mesotarsi on distal 10 % and metatarsi on distal 5 %. Abdomen. Shiny, predominantly black but tergi 1–7 with vertical white stripes on lateral aspects only, cerci white, sternites dark brown with light brown posterior margins, pleural membrane dark brown. Female. Ovipositor red, sometimes with black shadings at base, 0.5 x body length; cerci elongate, tapering, rugose, baring numerous long setae except for tip which is bare and smooth; posterior margins of tergi 1–8 simple, posterior margin of 9 th tergite with a very weakly expanded median lobe, posterior margin of 10 th tergite with gradual but large depressions medially and before cerci; posterior margins of sternites 1–7 simple, subgenital plate triangular and apex with a short soft spine. Nymphs. Small nymphs colored brown and black (Fig. 5 D), developing adult coloration at around 20mm (Fig. 5 C). Type data. HOLOTYPE: Adult female (31mm), Sinbad Gully, Fiordland National Park, New Zealand, 1200m a.s.l., NZMS 260 D 40 20982 56051, March 2007, Tony Jewell. PARATYPES: 2 female nymphs (27mm and 19.3mm, respectively), same collection data as Holotype. Distribution. So far confirmed only from the Sinbad Gully in northern Fiordland (44 ° 38 ' S, 167 ° 48 ' E), between 1000–1200m a.s.l. However, Hemiandrus specimens with color traits identical to H. nitaweta have been recorded from Treble Mountain in south-west Fiordland (46 °00' S, 167 ° 50 ' E, C. Rickard pers. com.; photos examined by author) suggesting a broad distribution in the west of the Park, but confirmation must await the collection of voucher material. Additional material examined. 2 adult females and 1 male nymph, examined from photographs taken at the Type locality in March 2004. 1 small nymph (about 10mm) observed at the Type locality in March 2007. Etymology. This brilliantly colored species is named for Anita (‘ Nita) Davis who brings much color to the author's life, combining her first name with weta, i.e. the Maori word for the Anostostomatidae. Natural history. Inhabits rocky alpine grasslands/herbfields and vegetated rock bluffs in a cool, wet climate (rain and snow precipitation est. 10,000 +mm p.a. + waterfall mist). Nocturnal, most active on damp cloudy nights; specimens often forage in low vegetation, especially Astelia sp., but are also seen on groundlevel vegetation such as Muehlenbeckia axillaris. By day inhabits tunnels in the ground but unlike H. superba these are rarely excavated beneath rocks. Sympatric with H. maculifrons and H. superba. Comments. At up to at least 31mm in length, H. nitaweta ranks among the larger species of Hemiandrus, exceeding H. sp. "elegans" (30mm, Johns 2001) and approaching H. focalis (some from western Otago/Southland attaining 33mm, pers. obs.). The relationships of H. nitaweta are unresolved but the general pattern of the coloring and the descending extent of setae coverage on the 4 th pro-, meso- and metatarsal segments draws tentative comparison with H. fiordensis (Fig. 6 A).Published as part of Jewell, Tony, 2007, Two new species of Hemiandrus (Orthoptera: Anostostomatidae) from Fiordland National Park, New Zealand, pp. 49-57 in Zootaxa 1542 on pages 50-56, DOI: 10.5281/zenodo.17789

FIGURE 4 in Two new species of Hemiandrus (Orthoptera: Anostostomatidae) from Fiordland National Park, New Zealand

FIGURE 4: Habitus and life color of Hemiandrus nitaweta n. sp. in the Sinbad Gully: A) adult female Holotype photographed in life, March 2007; B) adult female photographed in situ., March 2004; C) male nymph (est. 22 mm) photographed in situ., March 2004; D) paratype female nymph (19.3 mm) photographed in life, March 2007

New Zealand forest-dwelling skinks of the Oligosoma oliveri (McCann) species-complex (Reptilia: Scincidae): reinstatement of O. pachysomaticum (Robb) and an assessment of historical distribution ranges

Jewell, Tony R. (2019): New Zealand forest-dwelling skinks of the Oligosoma oliveri (McCann) species-complex (Reptilia: Scincidae): reinstatement of O. pachysomaticum (Robb) and an assessment of historical distribution ranges. Zootaxa 4688 (3): 382-398, DOI: https://doi.org/10.11646/zootaxa.4688.3.