Genus Leptostichaeus and its position in the taxonomy of fishes (Perciformes: Zoarcoidei, Stichaeidae)

Up to the present, the genus Leptostichaeus has been considered as belonging to subfamily Lumpeninae. A series of characters was analyzed for family and subfamily diagnostics within the group Stichaeidae. It was found that, in combination of all examined characters, the genus Leptostichaeus is either similar to Azygopterus or occupies an intermediate position between the latter and other members of the family Stichaeidae. The genus Leptostichaeus is transferred into the group Azygopterinae, which is revalidated as a subfamily within the family Stichaeidae.     

Osteology and ontogeny of the wrymouths,genus Cryptacanthodes (Cottiformes: Zoarcoidei: Cryptacanthodidae)

The four species included in the family Cryptacanthodidae are eel‐like, burrowing fishes distributed in the cold‐temperate coastal waters of the North Pacific and the western North Atlantic. This study describes the osteology and aspects of the ontogenetic skeletal development of two species, Cryptacanthodes maculatus from the western North Atlantic and C. aleutensis from the eastern North Pacific. We discuss the relationships of Cryptacanthodidae among other zoarcoid families. The Cryptacanthodidae have been previously included in the Stichaeidae, but removed and classified as a separate family based on the skull, pectoral radial, and cephalic lateral‐line morphology. Our observations (similarities in gill arch and pectoral girdle morphology; specifically, a thin sheet‐like flange of bone from the posterior margin of the supracleithrum) suggest a close relationship to at least some of the members of the family Stichaeidae. J. Morphol. 276:185–208, 2015. © 2014 Wiley Periodicals, Inc.     

Relationships and position of the taxa of the subfamily Xiphisterinae in the system of the suborder Zoarcoidei (Perciformes)

Analysis of the nucleotide sequences of mitochondrial and nuclear DNA genes was used to examine the relationships and position of the subfamily Xiphisterinae in the system of the suborder Zoarcoidei. This study showed the genetic heterogeneity of Xiphisterinae and the propriety of its division into two subfamilies: Xiphisterinae with the genera Xiphister and Phytichthys and Cebidichthyinae with the genera Cebidichthys, Dictyosoma, Esselenichthys, and Nivchia. The genetic differences between the two subfamilies were not less, but in some cases even greater than the differences between families within the suborder; therefore, they should be raised to the rank of a family, Xiphisteridae and Cebidichthyidae, and classified not within the superfamily Stichaeoidae but rather as independent taxa of the suborder Zoarcoidei.     

Relationships and position of the genus <Emphasis Type="Italic">Neozoarces</Emphasis> of the subfamily neozoarcinae in the system of the suborder Zoarcoidei (Pisces,Perciformes) by molecular-genetic data

Using the method of molecular-genetic analysis, we investigated the genus Neozoarces (subfamily Neozoarcinae) to reveal its relationships and position in the system of the suborder Zoacoidei. Comparison with representatives of other families of this suborder demonstrated that the lowest level of differences is observed between Neozoarces and subfamilies of the family Zoarcidae (the mean value of genetic divergence is 11.9%) with which it forms a general cluster on the phylogenetic tree. From representatives of the family Stichaeidae, Neozoarces differs at the same level (13.9%) as from the families Bathymasteridae, Pholidae, Ptilichthyidae, and Zaproridae (14.0%). The results of investigations confirm the viewpoint suggested by Makushok (1961) who included, for the first time, the subfamily Neozoarcinae to the family Zoarcidae on the basis of comparative morphological investigation of these groups.     

Osteology of the Graveldiver Scytalina cerdale (Perciformes: Zoarcoidei: Scytalinidae)

The Graveldiver, Scytalina cerdale, is a small, poorly known burrowing fish from the intertidal and subtidal zones of the west coast of North America, ranging from south‐central California to Alaska. This is the sole member of the family Scytalinidae, which is included in the Zoarcoidei. Although it was described over 120 years ago, it is rare in natural history collections and its anatomy is only imperfectly known. This article describes and illustrates the skeletal anatomy of S. cerdale based on newly prepared cleared and stained specimens. Many points of its anatomy are clarified or corrected (e.g., presence of the intercalars and ribs, in contrast to their reported absence) or described for the first time (e.g., structure of its gill‐arches). Previous hypotheses of its systematic placement within the Zoarcoidei are discussed. On the basis of preliminary comparisons, S. cerdale may have phylogenetic affinity with at least some members of the family Stichaeidae (e.g., Xiphister). However, further study is needed on the anatomy and inter‐relationships of the families of the Zoarcoidei before any conclusions can be made. J. Morphol., 2009. © 2009 Wiley‐Liss, Inc.     

Position of the genus Azygopterus (Stichaeidae,Perciformes) in the system of the suborder Zoarcoidei as inferred from sequence variation of mitochondrial and nuclear genes

Analysis of sequence variation in the mitochondrial and nuclear genes in Azygopterus corallinus showed that this species was genetically close to the group uniting the representatives of the families Zoarcidae, Neozoarcidae, and Anarhichadidae. The considerable genetic differences between A. corallinus and the members of the family Stichaedae, to which it was assigned earlier, are consistent with the divergence estimates between the other families of the suborder Zoarcoidei (Zaproridae, Ptilichthyidae, Pholidae, Cryptacanthodidae, Bathymasteridae).     

Vertical Distribution, Size Structure, and Habitat Associations of Four Blenniidae Species on Gas Platforms in the Northcentral Gulf of Mexico

We counted individuals of the family Blenniidae and estimated their sizes on gas platforms southeast of Dauphin Island, Alabama. We observed species abundance decreasing as depth increased. Fish sizes also decreased with depth. The most abundant species was molly miller, Scartella cristata, followed by plumed blenny, Hypleurochilus multifilis, tessellated blenny, Hypsoblennius invemar, and seaweed blenny, Parablennius marmoreus. Total blenny abundance was positively related to the barnacle, Megabalanus antillensis, and dissolved oxygen concentrations, and inversely related to Anthozoa. Individually, S. cristata was correlated with M. antillensis, and inversely related to salinity, while the other blenny species showed more complex correlations to invertebrates. As a community, blennies showed a clear separation based on depth independent of offshore/inshore sites and sample date based on multidimensional scaling analyses. Our study suggests that attached invertebrates, particularly M. antillensis, provided a predation refuge, allowing these blenny species to exist in an otherwise unsuitable habitat, i.e. open shallow waters of the northern Gulf of Mexico.     

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech

Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage analysis, copy-number analysis, identity-by-descent sharing, and exome sequencing with variant filtering. No overlaps in regions with positive evidence of linkage between the two families were found. In one family, linkage analysis detected two chromosomal regions of interest, 5p15.1-p14.1, and 17p13.1-q11.1, inherited separately from the two founders. Single-point linkage analysis of selected variants identified CDH18 as a primary gene of interest and additionally, MYO10, NIPBL, GLP2R, NCOR1, FLCN, SMCR8, NEK8, and ANKRD12, possibly with additive effects. Linkage analysis in the second family detected five regions with LOD scores approaching the highest values possible in the family. A gene of interest was C4orf21 (ZGRF1) on 4q25-q28.2. Evidence for previously described causal copy-number variations and validated or suspected genes was not found. Results are consistent with a heterogeneous CAS etiology, as is expected in many neurogenic disorders. Future studies will investigate genome variants in these and other families with CAS.     

New Insight for the Genetic Evaluation of Resistance to Ostreid Herpesvirus Infection,a Worldwide Disease,in Crassostrea gigas

The Pacific oyster, Crassostrea gigas, is the most important commercial oyster species cultivated in the world. Meanwhile, the ostreid herpesvirus 1 (OsHV-1) is one of the major pathogens affecting the Pacific oyster, and numerous mortality outbreaks related to this pathogen are now reported worldwide. To assess the genetic basis of resistance to OsHV-1 infection in spat C. gigas and to facilitate breeding programs for such a trait, if any exist, we compared the mortality of half- and full-sib families using three field methods and a controlled challenge by OsHV-1 in the laboratory. In the field, three methods were tested: (A) one family per bag; (B) one family per small soft mesh bag and all families inside one bag; (C) same as the previous methods but the oysters were individually labelled and then mixed. The mean mortality ranged from 80 to 82% and was related to OsHV-1 based on viral DNA detection. The narrow-sense heritability for mortality, and thus OsHV-1 resistance, ranged from 0.49 to 0.60. The high positive genetic correlations across the field methods suggested no genotype by environment interaction. Ideally, selective breeding could use method B, which is less time- and space-consuming. The narrow sense heritability for mortality under OsHV-1 challenge was 0.61, and genetic correlation between the field and the laboratory was ranged from 0.68 to 0.75, suggesting a weak genotype by environment interaction. Thus, most of families showing the highest survival performed well in field and laboratory conditions, and a similar trend was also observed for families with the lowest survival. In conclusion, this is the first study demonstrating a large additive genetic variation for resistance to OsHV-1 infection in C. gigas, regardless of the methods used, which should help in selective breeding to improve resistance to viral infection in C. gigas.     

New records of fish parasitic isopods of the gill-attaching genus Mothocya Costa,in Hope, 1851 from the Virgin Islands,Caribbean, with description of a new species

Two species of Mothocya Costa, in Hope, 1851 are reported from the Virgin Islands. Mothocya xenobranchia Bruce, 1986 was collected from St. John Island from the gills of the Atlantic needlefish, Strongylura marina, which is a new locality record and also confirms a previously uncertain host identity. Mothocya bertlucy sp. n. is described from St. Thomas, St John and Guana Islands, from the gills of the redlip blenny, Ophioblennius macclurei, the first record of a blenny as host for any Mothocya. The distinguishing characters of Mothocya bertlucy sp. n. include its small size (< 9 mm) and eyes, the slender pleotelson with a narrowly rounded caudomedial point, extended uropod peduncle and uropods which do not extend past the pleotelson posterior margin, and the narrow pleon which is only slightly overlapped by pereonite 7.     

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

BackgroundIdentifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human development at a molecular level. Consanguineous families in which embryonic lethality segregates as a recessive Mendelian phenotype offer a unique opportunity for high throughput novel gene discovery as has been established for other recessive postnatal phenotypes.ResultsWe have studied 24 eligible families using autozygosity mapping and whole-exome sequencing. In addition to revealing mutations in genes previously linked to embryonic lethality in severe cases, our approach revealed seven novel candidate genes (THSD1, PIGC, UBN1, MYOM1, DNAH14, GALNT14, and FZD6). A founder mutation in one of these genes, THSD1, which has been linked to vascular permeability, accounted for embryonic lethality in three of the study families. Unlike the other six candidate genes, we were able to identify a second mutation in THSD1 in a family with a less severe phenotype consisting of hydrops fetalis and persistent postnatal edema, which provides further support for the proposed link between this gene and embryonic lethality.ConclusionsOur study represents an important step towards the systematic analysis of “embryonic lethal genes” in humans.

Electronic supplementary material

The online version of this article (doi:10.1186/s13059-015-0681-6) contains supplementary material, which is available to authorized users.     

Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss

The mutation spectrum of deafness genes may vary in different ethnical groups. In this study, we investigated the genetic etiology of nonsyndromic deafness in four consanguineous and two multiplex Uyghur families in which mutations in common deafness genes GJB2, SLC26A4 and MT-RNR1 were excluded. Targeted next-generation sequencing of 97 deafness genes was performed in the probands of each family. Novel pathogenic mutations were identified in four probands including the p.L416R/p.A438T compound heterozygous mutations in TMC1, the homozygous p.V1880E mutation in MYO7A, c.1238delT frameshifting deletion in PCDH15 and c.9690+1G>A splice site mutation in MYO15A. Co-segregation of the mutations and the deafness were confirmed within each family by Sanger sequencing. No pathogenic mutations were identified in one multiplex family and one consanguineous family. Our study provided a useful piece of information for the genetic etiology of deafness in Uyghurs.     

Sequence and expression of an α-amylase gene in four related species of prickleback fishes (Teleostei: Stichaeidae): ontogenetic,dietary, and species-level effects

Partial α-amylase gene sequences were determined and α-amylase gene expression was quantified in four species of carnivorous, omnivorous, and herbivorous prickleback fishes (family Stichaeidae) to assess the effects of ontogeny, diet, and species on expression of this gene. Pairwise comparison of α-amylase nucleotide sequences revealed 96–98 % identity, and comparison of amino acid portions revealed 93–95 % similarity among the four prickleback species. Expression was determined using in situ hybridization and intensity of expression quantified using image analysis. Alpha-amylase expression level was compared in three feeding categories of the four species: (1) small, wild-caught carnivorous juveniles; (2) larger, wild-caught juveniles of the carnivorous species and the three that had shifted to herbivory or omnivory; and (3) larger, juveniles produced by feeding a low-starch artificial diet to small juveniles until they reached the size of the larger wild-caught juveniles. The results showed no dietary effect in any species but significant ontogenetic and species-level effects in Cebidichthys violaceus, as well as in the sister species Xiphister mucosus and X. atropurpureus. Based on a phylogeny for the Stichaeidae produced for this study using two mtDNA genes and one nuclear gene, the ontogenetic dietary shifts to herbivory/omnivory evolved independently in C. violaceus and in the clade containing the two species of Xiphister. All three of these species increased α-amylase gene expression with increase in size and had higher expression than Anoplarchus purpurescens, which is a member of a third, stichaeid clade comprising carnivores. These results show the importance of α-amylase in the herbivores and omnivores.     

Relationships and position of wrymouths of the family cryptacanthodidae in the system of the suborder Zoarcoidei (Pisces,Perciformes)

To determine the taxonomic position of wrymouths of the family Cryptacanthodidae in the system of the suborder Zoarcoidei, a study on molecular genetics and comparative morphology of Cryptacanthodes bergi from Peter the Great Bay (Sea of Japan) is conducted. Based on molecular genetic analysis using the genes of nuclear and mitochondrial DNA, Cryptacanthodes bergi is substantially similar to the representatives of the superfamily Stichaeoidae. Thus, the opinion of Makushok on a phylogenetically distinct position of wrymouths in relation to snake blennies and related families is not supported. The anatomical features of skull structure support the data of molecular genetics. The directions and time of distribution of wrymouths in the northwest Atlantic through the channel in the area of the Isthmus of Panama in approximately the late Miocene are discussed.     

Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

Background

Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD).

Methods

We genetically screened 13 families from a cohort of 81 Pakistani IRD families diagnosed with Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), congenital stationary night blindness (CSNB), or cone dystrophy (CD). We employed genome-wide single nucleotide polymorphism (SNP) array analysis to identify homozygous regions shared by affected individuals and performed Sanger sequencing of IRD-associated genes located in the sizeable homozygous regions. In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS) of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families.

Results

Homozygosity mapping and Sanger sequencing of IRD-associated genes revealed the underlying mutations in 10 families. TSS revealed causative variants in three families. In these 13 families four novel mutations were identified in CNGA1, CNGB1, GUCY2D, and RPGRIP1.

Conclusions

Homozygosity mapping and TSS revealed the underlying genetic cause in 13 IRD families, which is useful for genetic counseling as well as therapeutic interventions that are likely to become available in the near future.     

Numbers of genes in the NBS and RLK families vary by more than four-fold within a plant species and are regulated by multiple factors

Many genes exist in the form of families; however, little is known about their size variation, evolution and biology. Here, we present the size variation and evolution of the nucleotide-binding site (NBS)-encoding gene family and receptor-like kinase (RLK) gene family in Oryza, Glycine and Gossypium. The sizes of both families vary by numeral fold, not only among species, surprisingly, also within a species. The size variations of the gene families are shown to correlate with each other, indicating their interactions, and driven by natural selection, artificial selection and genome size variation, but likely not by polyploidization. The numbers of genes in the families in a polyploid species are similar to those of one of its diploid donors, suggesting that polyploidization plays little roles in the expansion of the gene families and that organisms tend not to maintain their ‘surplus’ genes in the course of evolution. Furthermore, it is found that the size variations of both gene families are associated with organisms’ phylogeny, suggesting their roles in speciation and evolution. Since both selection and speciation act on organism’s morphological, physiological and biological variation, our results indicate that the variation of gene family size provides a source of genetic variation and evolution.     

Genome-Wide Annotation and Comparative Analysis of Cytochrome P450 Monooxygenases in Basidiomycete Biotrophic Plant Pathogens

Fungi are an exceptional source of diverse and novel cytochrome P450 monooxygenases (P450s), heme-thiolate proteins, with catalytic versatility. Agaricomycotina saprophytes have yielded most of the available information on basidiomycete P450s. This resulted in observing similar P450 family types in basidiomycetes with few differences in P450 families among Agaricomycotina saprophytes. The present study demonstrated the presence of unique P450 family patterns in basidiomycete biotrophic plant pathogens that could possibly have originated from the adaptation of these species to different ecological niches (host influence). Systematic analysis of P450s in basidiomycete biotrophic plant pathogens belonging to three different orders, Agaricomycotina (Armillaria mellea), Pucciniomycotina (Melampsora laricis-populina, M. lini, Mixia osmundae and Puccinia graminis) and Ustilaginomycotina (Ustilago maydis, Sporisorium reilianum and Tilletiaria anomala), revealed the presence of numerous putative P450s ranging from 267 (A. mellea) to 14 (M. osmundae). Analysis of P450 families revealed the presence of 41 new P450 families and 27 new P450 subfamilies in these biotrophic plant pathogens. Order-level comparison of P450 families between biotrophic plant pathogens revealed the presence of unique P450 family patterns in these organisms, possibly reflecting the characteristics of their order. Further comparison of P450 families with basidiomycete non-pathogens confirmed that biotrophic plant pathogens harbour the unique P450 families in their genomes. The CYP63, CYP5037, CYP5136, CYP5137 and CYP5341 P450 families were expanded in A. mellea when compared to other Agaricomycotina saprophytes and the CYP5221 and CYP5233 P450 families in P. graminis and M. laricis-populina. The present study revealed that expansion of these P450 families is due to paralogous evolution of member P450s. The presence of unique P450 families in these organisms serves as evidence of how a host/ecological niche can influence shaping the P450 content of an organism. The present study initiates our understanding of P450 family patterns in basidiomycete biotrophic plant pathogens.