Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus

<p>Abstract</p> <p>Background</p> <p><it>MCF2L2, ADIPOQ </it>and <it>SOX2 </it>genes are located in chromosome 3q26-27, which is linked to diabetic nephropathy (DN). <it>ADIPOQ </it>and <it>SOX2 </it>genetic polymorphisms are found to be associated with DN. In the present study, we first investigated the association between <it>MCF2L2 </it>and DN, and then evaluated effects of these three genes on the development of DN.</p> <p>Methods</p> <p>A total of 1177 type 1 diabetes patients with and without DN from the GoKinD study were genotyped with TaqMan allelic discrimination. All subjects were of European descent.</p> <p>Results</p> <p>Leu359Ile T/G variant in the <it>MCF2L2 </it>gene was found to be associated with DN in female subjects (P = 0.017, OR = 0.701, 95%CI 0.524-0.938) but not in males. The GG genotype carriers among female patients with DN had tendency decreased creatinine and cystatin levels compared to the carriers with either TT or TG genotypes. This polymorphism <it>MCF2L2-</it>rs7639705 together with SNPs of <it>ADIPOQ</it>-rs266729 and <it>SOX2</it>-rs11915160 had combined effects on decreased risk of DN in females (P = 0.001).</p> <p>Conclusion</p> <p>The present study provides evidence that <it>MCF2L2</it>, <it>ADIPOQ </it>and <it>SOX2 </it>genetic polymorphisms have effects on the resistance of DN in female T1D patients, and suggests that the linkage with DN in chromosome 3q may be explained by the cumulated genetic effects.</p

STAGES IN THE ORIGIN OF VERTEBRATES: ANALYSIS BY MEANS OF SCENARIOS

Vertebrates lack an epidermal nerve plexus. This feature is common to many invertebrates from which vertebrates differ by an extensive set of shared-derived characters (synapomorphies) derived from the neural crest and epidermal neurogenic placodes. Hence, the hypothesis that the developmental precursor of the epidermal nerve plexus may be homologous to the neural crest and epidermal neurogenic placodes. This account attempts to generate a nested set of scenarios for the prevertebrate-vertebrate transition, associating a presumed sequence of behavioural and environmental changes with the observed phenotypic ones. Toward this end, it integrates morphological, developmental, functional (physiological/behavioural) and some ecological data, as many phenotypic shifts apparently involved associated transitions in several aspects of the animals. The scenarios deal with the origin of embryonic and adult tissues and such major organs as the notochord, the CNS, gills and kidneys and propose a sequence of associated changes. Alternative scenarios are stated as the evidence often remains insufficient for decision. The analysis points to gaps in comprehension of the biology of the animals and therefore suggests further research.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/72629/1/j.1469-185X.1989.tb00471.x.pd

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

dentification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight complementary dichotomous and quantitative DKD phenotypes: the principal dichotomous analysis involved 5,717 T2D subjects, 3,345 with DKD. Promising association signals were evaluated in up to 26,827 subjects with T2D (12,710 with DKD). A combined T1D+T2D GWAS was performed using complementary data available for subjects with T1D, which, with replication samples, involved up to 40,340 subjects with diabetes (18,582 with DKD). Analysis of specific DKD phenotypes identified a novel signal near GABRR1 (rs9942471, P = 4.5 x 10(-8)) associated with microalbuminuria in European T2D case subjects. However, no replication of this signal was observed in Asian subjects with T2D or in the equivalent T1D analysis. There was only limited support, in this substantially enlarged analysis, for association at previously reported DKD signals, except for those at UMOD and PRKAG2, both associated with estimated glomerular filtration rate. We conclude that, despite challenges in addressing phenotypic heterogeneity, access to increased sample sizes will continue to provide more robust inference regarding risk variant discovery for DKD.Peer reviewe

Eptatretus mccoskeri McMillan 1999

&lt;i&gt;EPTATRETUS MCCOSKERI&lt;/i&gt; MCMILLAN, 1999 &lt;p&gt;MCCOSKER&rsquo; S HAGFISH&lt;/p&gt; &lt;p&gt;(FIGS 1, 2D, 3C, 5, 6C; TABLES 1&ndash;3)&lt;/p&gt; &lt;p&gt; &lt;i&gt;Eptatretus mccoskeri&lt;/i&gt; McMillan, 1999: 115, fig. 2d&ndash;g [type locality: Galapagos Islands, 01&deg;06.3&rsquo;S, 89&deg;06.9&rsquo;W, depth 704 ft (correct depth 660 ft / 201 m); type series: holotype, CAS 86431; paratypes, SIO 97-75 (2), USNM 344905 (1)].&lt;/p&gt; &lt;p&gt; &lt;i&gt;Eptatretus mccoskeri&lt;/i&gt;. &ndash; Mok, 2001: 356. &ndash; Mok &lt;i&gt;et al.&lt;/i&gt;, 2001: 1026. &ndash; McMillan &amp; Wisner, 2004: 55. &ndash; Mincarone &amp; McCosker, 2004: 166. &ndash; M&oslash;ller &amp; Jones, 2007: 64. &ndash; McCosker &amp; Rosenblatt, 2010: 172. &ndash; Mincarone &amp; Fernholm, 2010: 797. &ndash; Knapp &lt;i&gt;et al.&lt;/i&gt;, 2011: 404. &ndash; Ruiz &lt;i&gt;et al.&lt;/i&gt;, 2011: 30. &ndash; Mincarone &amp; McCosker, 2014: 347. &ndash; Cruz-Mena &amp; Angulo, 2015: 325. &ndash; Angulo &amp; Del Moral-Flores, 2016: 105.&lt;/p&gt; &lt;p&gt; &lt;i&gt;Eptatretus Eptatretus mccoskeri.&lt;/i&gt; &ndash; M&oslash;ller &amp; Jones, 2007: 64.&lt;/p&gt; &lt;p&gt; &lt;i&gt;Material examined:&lt;/i&gt; CAS 86431, holotype (310 mm), off SE San Cristobal Island, 01&deg;06&rsquo;19&rdquo;S, 89&deg;06&rsquo;56&rdquo;W, 201 m depth, submersible &lt;i&gt;Johnson Sea Link&lt;/i&gt;, baited minnow trap, John E. McCosker, 16 November 1995. SIO 97&ndash;75, paratype (290 mm), and USNM 344905, paratype (284 mm), taken with the holotype. MCCDRS 9397 &lt;i&gt;COI,&lt;/i&gt; 16S , 2(303&ndash;304 mm) and SIO 19-81 &lt;i&gt;COI,&lt;/i&gt; 16S , 2 (310&ndash; 310 mm), between Santa Cruz and Santa F&eacute; islands, 00&deg;48&rsquo;00&rdquo;S, 90&deg;10&rsquo;12&rdquo;W, 155 m depth, &lt;i&gt;Valeska Yamile&lt;/i&gt;, sta. G1, baited trap, Douglas Fudge &lt;i&gt;et al&lt;/i&gt;., 26 May 2019, 08:01&ndash;10:06 h.&lt;/p&gt; &lt;p&gt; &lt;i&gt;Diagnosis: Eptatretus mccoskeri&lt;/i&gt; differs from all congeners, except &lt;i&gt;Eptatretus poicilus&lt;/i&gt; Zintzen &amp; Roberts, 2015 from New Zealand, by having eight pairs (seven pairs in one specimen of &lt;i&gt;E. mccoskeri&lt;/i&gt;) of gill apertures well-spaced and arranged in a near straight line, and a 3/3 multicusp pattern of teeth. &lt;i&gt;Eptatretus mccoskeri&lt;/i&gt; differs from &lt;i&gt;E. poicilus&lt;/i&gt; by its number of trunk pores (38&ndash;43 vs. 45&ndash;50), number of total pores (69&ndash;75 vs. 78&ndash;86) and by its colour pattern (body purple to purplish brown vs. body strongly mottled with pale brown, dark brown and white-beige) (McMillan, 1999; Zintzen &lt;i&gt;et al.&lt;/i&gt;, 2015).&lt;/p&gt; &lt;p&gt; &lt;i&gt;Description:&lt;/i&gt; Body elongated, subcylindrical at prebranchial and branchial regions, laterally compressed at trunk and strongly compressed at tail. Rostrum bluntly rounded. Two bilaterally symmetrical nasal-sinus papillae in the dorsal surface of the nasal sinus. Eyespots conspicuous. Three pairs of barbels on head: first two about equal in size (1.5&ndash;2.2% TL) and adjacent to opening of nasopharyngeal duct; third pair longer (1.9&ndash;2.9% TL) and immediately adjacent to mouth. Ventral finfold absent (occasionally represented by a white line) or low (1&ndash;2 mm high), beginning within anterior 1/3 of trunk, extending backwards to cloaca. Caudal finfold well developed, thin, extending around tail to dorsal surface, ending about over cloaca.&lt;/p&gt; &lt;p&gt;Body proportions (in percentage of TL; description of the holotype followed by range of paratypes in brackets): preocular length 7.1 (5.6&ndash;6.3); prebranchial length 25.8 (22.6&ndash;26.1); branchial length 10.0 (8.8&ndash; 13.5); preventral length 51.6 (38.7&ndash;53.4); trunk length 49.7 (49.3&ndash;56.1); tail length 15.8 (10.6&ndash;16.9); body width at PCD 7.3 (6.9&ndash;8.6); body depth at PCD (6.6&ndash;8.4); body depth including VFF 8.2 (7.7&ndash;9.3); body depth excluding VFF 8.2 (7.4&ndash;9.1); body depth at cloaca 7.3 (6.8&ndash;14.5); tail depth 8.9 (7.1&ndash;9.8).&lt;/p&gt; &lt;p&gt;Counts (description of the holotype followed by range of paratypes in brackets): multicusp pattern 3/3; anterior unicusps 10 (8&ndash;10); posterior unicusps 9 (8&ndash;10); total cusps 51 (44&ndash;51). Prebranchial pores 13 (13&ndash;16); branchial pores 7 (6&ndash;7); trunk pores 43 (38&ndash; 43); tail pores 10 (10&ndash;12); total pores 73 (69&ndash;75).&lt;/p&gt; &lt;p&gt;Eight pairs of gill pouches corresponding to eight pairs of gill apertures (one specimen with seven pairs of gill pouches and apertures). Gill apertures well-spaced and linearly arranged. Last branchial duct confluent with pharyngocutaneous duct on left side, forming a larger aperture. Posterior tip of dental muscle reaches gill pouches 5&ndash;6. Ventral aorta branches at gill pouches 6&ndash;7.&lt;/p&gt; &lt;p&gt;Colour (in life): body purple to purplish brown; mouth with white margin; barbels white; eyespots visible, but not prominent; gill apertures with white margins; ventral finfold occasionally lighter than body; caudal finfold with white margin (Fig. 3). Colour in alcohol darker than that described for live specimens.&lt;/p&gt; &lt;p&gt; &lt;i&gt;Distribution and habitat:&lt;/i&gt; Galapagos Islands: known from seven specimens collected in two localities: off south-eastern San Cristobal Island, on the top of a seamount at about 201 m depth; and between Santa Cruz and Santa F&eacute; islands, at 155 m depth (Fig. 1).&lt;/p&gt;Published as part of &lt;i&gt;Mincarone, M. M., Plachetzki, D., McCORD, C. L., Winegard, T. M., Fernholm, B., Gonzalez, C. J. &amp; Fudge, D. S., 2021, Review of the hagfishes (Myxinidae) from the Galapagos Islands, with descriptions of four new species and their phylogenetic relationships, pp. 453-474 in Zoological Journal of the Linnean Society 192&lt;/i&gt; on pages 462-46

Eptatretus goslinei Mincarone & Plachetzki & McCORD & Winegard & Fernholm & Gonzalez & Fudge 2021, SP. NOV.

EPTATRETUS GOSLINEI SP. NOV. &lt;p&gt;GOSLINE&rsquo; S HAGFISH&lt;/p&gt; &lt;p&gt;(FIGS 1, 2B, 3B, 5; TABLES 1&ndash;3)&lt;/p&gt; &lt;p&gt;Z o o b a n k r e g i s t r a t i o n. u r n: l s i d: z o o b a n k. org:act: A0F33266-3F54-4B7E-936B-0766CA231683&lt;/p&gt; &lt;p&gt; &lt;i&gt;H o l o t y p e:&lt;/i&gt; S I O 1 9- 7 8, 3 0 0 m m, N W I s a b e l a Island, between Cabo Berkeley and Punta Flores, 00&deg;01&rsquo;54.47&rdquo;N, 91&deg;33&rsquo;02.12&rdquo;W, 467 m depth, &lt;i&gt;Queen&lt;/i&gt;&lt;/p&gt; &lt;p&gt; &lt;i&gt;Mabel&lt;/i&gt;, sta. G23, baited trap, Douglas Fudge &lt;i&gt;et al&lt;/i&gt;., 7 June 2019, 12:20&ndash;15:00 h.&lt;/p&gt; &lt;p&gt; &lt;i&gt;Paratypes:&lt;/i&gt; MCCDRS 9403 &lt;i&gt;COI&lt;/i&gt;, 16S , 14(234&ndash;347 mm) and SIO 19&ndash;79 &lt;i&gt;COI&lt;/i&gt;, 16S , 2(305&ndash;360 mm), taken with the holotype. MCCDRS 9402 &lt;i&gt;COI&lt;/i&gt;, 16S , 1(305 mm), NW Fernandina Island, Cabo Douglas, 00&deg;17&rsquo;43.73&rdquo;S, 91&deg;39&rsquo;19.61&rdquo; W, 478 m depth, Queen Mabel, sta. G21, baited trap, Douglas Fudge &lt;i&gt;et al.&lt;/i&gt;, 6 June 2019, 15:06&ndash;16:52 h.&lt;/p&gt; &lt;p&gt; &lt;i&gt;Diagnosis: Eptatretus goslinei&lt;/i&gt; differs from all congeners, except &lt;i&gt;E. astrolabium&lt;/i&gt; Fernholm &amp; Mincarone, 2010 from Papua New Guinea, &lt;i&gt;E. caribbaeus&lt;/i&gt; Fernholm, 1982 from the Caribbean Sea, &lt;i&gt;E. carlhubbsi&lt;/i&gt; McMillan &amp; Wisner, 1984 from Hawaii, Wake, and Tinian islands, &lt;i&gt;E. cirrhatus&lt;/i&gt; (Forster in Bloch &amp; Schneider, 1801) from southeastern Australia and New Zealand, &lt;i&gt;E. cryptus&lt;/i&gt; Roberts &amp; Stewart, 2015 from New Zealand, &lt;i&gt;E. goliath&lt;/i&gt; Mincarone &amp; Stewart, 2006 from New Zealand, &lt;i&gt;E. laurahubbsae&lt;/i&gt; McMillan &amp; Wisner, 1984 from Juan Fern&aacute;ndez Island, &lt;i&gt;E. menezesi&lt;/i&gt; Mincarone, 2000 from southern Brazil and &lt;i&gt;E. strahani&lt;/i&gt; McMillan &amp; Wisner, 1984 from the Philippines and western Australia, by having seven pairs of gill apertures well spaced and arranged in a near straight line. &lt;i&gt;Eptatretus goslinei&lt;/i&gt; differs from these seven-gilled congeners by having: 9&ndash;12 anterior unicusps (vs. 13&ndash;17 in &lt;i&gt;E. carlhubbsi&lt;/i&gt; and &lt;i&gt;E. laurahubbsae&lt;/i&gt;); 47&ndash;58 total cusps (vs. 61&ndash;71 in &lt;i&gt;E. carlhubbsi&lt;/i&gt;, 61&ndash;68 in &lt;i&gt;E. laurahubbsae&lt;/i&gt;); 65&ndash;72 total pores (vs. 83&ndash;84 in &lt;i&gt;E. astrolabium&lt;/i&gt;, 79&ndash;85 in &lt;i&gt;E. caribbeaus&lt;/i&gt;, 93&ndash;110 in &lt;i&gt;E. carlhubbsi&lt;/i&gt;, 82&ndash;91 in &lt;i&gt;E. cirrhatus&lt;/i&gt;, 78&ndash;86 in &lt;i&gt;E. cryptus&lt;/i&gt;, 89&ndash;95 in &lt;i&gt;E. goliath&lt;/i&gt;, 97&ndash;105 in &lt;i&gt;E. laurahubbsae&lt;/i&gt;, 86&ndash;94 in &lt;i&gt;E. menezesi&lt;/i&gt;, 76&ndash;86 in &lt;i&gt;E. strahani&lt;/i&gt;); and by having two bilaterally symmetrical nasal-sinus papillae (vs. no nasalsinus papillae in &lt;i&gt;E. astrolabium&lt;/i&gt; and &lt;i&gt;E. caribbeaus&lt;/i&gt;) (Fernholm, 1982; McMillan &amp; Wisner, 1984; Mincarone, 2000; Mok, 2001; Mincarone &amp; Stewart, 2006; Fernholm &amp; Mincarone, 2010; Mincarone &amp; Fernholm, 2010; Zintzen &lt;i&gt;et al.&lt;/i&gt;, 2015).&lt;/p&gt; &lt;p&gt; &lt;i&gt;Description:&lt;/i&gt; Body elongated, subcylindrical at p r e b r a n ch i a l a n d b r a n ch i a l r e g i o n s, l a t e r a l l y compressed at trunk and strongly compressed at tail. Rostrum bluntly rounded. Eyespots conspicuous. Two small, bilaterally symmetrical nasal-sinus papillae in the dorsal surface of the nasal sinus (difficult to observe in some specimens). Three pairs of barbels on head, first two pairs subequal in size (1.3&ndash;2.4% TL) and adjacent to opening of nasopharyngeal duct; third pair longer (2.0&ndash;3.2% TL) and immediately adjacent to mouth. Ventral finfold absent (occasionally represented by a white line) or low (1&ndash;2 mm high), beginning within anterior third of trunk, extending with white tip; very distinct eyespots; gill apertures with white margins; ventral finfold appears only as a pale line or, when present, with white margin; caudal finfold occasionally with white margin (Fig. 3). Colour in alcohol similar to that of live specimens.&lt;/p&gt; &lt;p&gt; &lt;i&gt;Distribution and habitat:&lt;/i&gt; Galapagos Islands: known from 18 specimens collected in two localities off north-western Isabela (between Cabo Berkeley and Punta Flores), and north-western Fernandina (Cabo Douglas), at depths from 467 to 478 m (Fig. 1).&lt;/p&gt; &lt;p&gt; &lt;i&gt;Etymology:&lt;/i&gt; This species is named for Dr John M. Gosline (1944&ndash;2016), Professor in the Department of Zoology at the University of British Columbia (UBC), Vancouver, Canada, who pioneered work on the biomechanics of hagfish slime.&lt;/p&gt; &lt;p&gt;backwards to cloaca. Caudal finfold well developed, thin, extending around tail to dorsal surface, ending about over cloaca.&lt;/p&gt; &lt;p&gt;Body proportions (in percentage of TL; description of the holotype followed by range of paratypes in brackets): preocular length 6.3 (5.3&ndash;7.7); prebranchial length 23.0 (20.0&ndash;24.8); branchial length 10.0 (9.2&ndash;12.5); preventral length 50.0 (38.5&ndash; 55.7); trunk length 52.3 (49.0&ndash;55.0); tail length 15.7 (14.2&ndash;17.9); body width at PCD 7.0 (5.6&ndash;8.1); body depth at PCD 8.3 (6.6&ndash;9.4); body depth including VFF 9.3 (7.7&ndash;11.7); body depth excluding VFF 8.7 (7.6&ndash;10.7); body depth at cloaca 8.3 (6.7&ndash;9.2); tail depth 10.0 (7.7&ndash;11.0).&lt;/p&gt; &lt;p&gt;Counts (description of the holotype followed by range of paratypes in brackets): multicusp pattern 3/3; anterior unicusps 11 (9&ndash;12); posterior unicusps 10 (8&ndash;11); total cusps 52 (47&ndash;58). Prebranchial pores 11 (10&ndash;12); branchial pores 6 (6); trunk pores 42 (37&ndash;43); tail pores 13 (10&ndash;13); total pores 72 (65&ndash;72).&lt;/p&gt; &lt;p&gt;Seven pairs of gill pouches corresponding to seven pairs of gill apertures. Gill apertures well-spaced and linearly arranged. Last branchial duct confluent with pharyngocutaneous duct on left side, forming a larger aperture. Posterior tip of dental muscle reaches gill pouches 4&ndash;6. Ventral aorta branches at gill pouch 5&ndash;6.&lt;/p&gt; &lt;p&gt; Colour (in life): body dark brown (almost black in some specimens); mouth with white margin; barbels &lt;i&gt;Remarks:&lt;/i&gt; Images of an unidentified species of &lt;i&gt;Eptatretus&lt;/i&gt; were obtained off the north-eastern coast of Santa Cruz Island during the second expedition to the Galapagos in January 2020 (Fig. 6). Although no specimens were collected, the colour pattern and the number of gill apertures observed in video are similar to those of &lt;i&gt;E. goslinei&lt;/i&gt;.&lt;/p&gt;Published as part of &lt;i&gt;Mincarone, M. M., Plachetzki, D., McCORD, C. L., Winegard, T. M., Fernholm, B., Gonzalez, C. J. &amp; Fudge, D. S., 2021, Review of the hagfishes (Myxinidae) from the Galapagos Islands, with descriptions of four new species and their phylogenetic relationships, pp. 453-474 in Zoological Journal of the Linnean Society 192&lt;/i&gt; on pages 459-46