Field evaluation of abundance estimates under binomial and multinomial N-mixture models

Assessing and modelling abundance from animal count data is a very common task in ecology and management. Detection is arguably never perfect, but modern hierarchical models can incorporate detection probability and yield abundance estimates that are corrected for imperfect detection. Two variants of these models rely on counts of unmarked individuals, or territories (binomial N-mixture models, or binmix), and on detection histories based on territory-mapping data (multinomial N-mixture models or multimix). However, calibration studies which evaluate these two N-mixture model approaches are needed. We analysed conventional territory-mapping data (three surveys in 2014 and four in 2015) using both binmix and multimix models to estimate abundance for two common avian cavity-nesting forest species (Great Tit Parus major and Eurasian Blue Tit Cyanistes caeruleus). In the same study area, we used two benchmarks: occupancy data from a dense nestbox scheme and total number of detected territories. To investigate variance in estimates due to the territory assignment, three independent ornithologists conducted territory assignments. Nestbox occupancy yields a minimum number of territories, as some natural cavities may have been used, and binmix model estimates were generally higher than this benchmark. Estimates using the multimix model were slightly more precise than binmix model estimates. Depending on the person assigning the territories, the multimix model estimates became quite different, either overestimating or underestimating the ‘truth’. We conclude that N-mixture models estimated abundance reliably, even for our very small sample sizes. Territory-mapping counts depended on territory assignment and this carried over to estimates under the multimix model. This limitation has to be taken into account when abundance estimates are compared between sites or years. Whenever possible, accounting for such hidden heterogeneity in the raw data of bird surveys, via including a ‘territory editor’ factor, is recommended. Distributing the surveys randomly (in time and space) to editors may also alleviate this problem.     

Field studies of seahorse population density,structure and habitat use in a semi-closed north-eastern Mediterranean marine area (Stratoni,North Aegean Sea)

The present study was carried out in the marine area of Stratoni, Greece, where two seahorse species are present (Hippocampus hippocampus and Hippocampus guttulatus). Two surveys were conducted (September 2016 and May 2019) to gather information regarding seahorse species' abundance, distribution and habitat characteristics. Four different seahorse natural and artificial habitat types were identified. The results revealed that the presence of H. hippocampus was relatively high, especially at sites with artificial structures, whereas the presence of H. guttulatus was rare. Data collected can provide baseline information for future population assessments.     

Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2)

Herein, we describe a case of an infertile man detected in postnatal diagnosis with FISH characterization and array-CGH used for genome-wide screening which allowed the identification of a complex rearrangement involving sex chromosomes, apparently without severe phenotypic consequences. The deletion detected in our patient has been compared with previously reported cases leading us to propose a hypothetical diagnostic algorithm that would be useful in similar clinical situations, with imperative multi disciplinary approach integrated with genetic counseling. Our patient, uniquely of reproductive age, is one of six reported cases of duplication of Xp22.3 (~ 8.4 Mb) segment and contemporary deletion of Yq (~ 42.9 Mb) with final karyotype as follows:

46,X,der(Y),t(X;Y)(Ypter → Yq11.221::Xp22.33 → Xpter).ish der(Y) (Yptel+,Ycen+,RP11-529I21+,RP11-506M9-Yqtel −,Xptel +). arrXp22.33p22.31(702–8,395,963, 8,408,289x1), Yq11.221q12 (14,569,317x1, 14,587,321–57,440,839x0)     

Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature

Partial duplication of 11q is related to several malformations like growth retardation, intellectual disability, hypoplasia of corpus callosum, short nose, palate defects, cardiac, urinary tract abnormalities and neural tube defects. We have studied the clinical and molecular characteristics of a patient with severe intellectual disabilities, dysmorphic features, congenital inguinal hernia and congenital cerebral malformation which is referred to as cytogenetic exploration. We have used FISH and array CGH analysis for a better understanding of the double chromosomic aberration involving a 7p microdeletion along with a partial duplication of 11q due to adjacent segregation of a paternal reciprocal translocation t(7;11)(p22;q21) revealed after banding analysis. The patient's karyotype formula was: 46,XY,der(7)t(7;11)(p22;q21)pat. FISH study confirmed these rearrangement and array CGH technique showed precisely the loss of at least 140 Kb on chromosome7p22.3pter and 33.4 Mb on chromosome11q22.1q25. Dysmorphic features, severe intellectual disability and brain malformations could result from the 11q22.1q25 trisomy. Our study provides an additional case for better understanding and delineating the partial duplication 11q.     

Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14)

We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region.     

Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development

Ambiguous genitalia or disorder of the sexual development is a birth defect where the external genitals do not have the typical appearance of either a male or female. Here we report a boy with ambiguous genitalia and short stature. The cytogenetic analysis by G-banding revealed a small Y chromosome and an additional material on the 15p arm. Further, molecular cytogenetic analysis by Fluorescence in situ hybridization (FISH) using whole chromosome paint probes showed the presence of Y sequences on the 15p arm, confirming that it is a Y;15 translocation. Subsequent, FISH with centromere probe Y showed two signals depicting the presence of two centromeres and differing with a balanced translocation. The dicentric nature of the derivative 15 chromosome was confirmed by FISH with both 15 and Y centromeric probes. Further, the delineation of the Y chromosomal DNA was also done by quantitative real time PCR. Additional Y-short tandem repeat typing was performed to find out the extent of deletion on small Y chromosome. Fine mapping was carried out with 8 Y specific BAC clones which helped in defining the breakpoint regions. MLPA was performed to check the presence or absence of subtelomeric regions and SHOX regions on Y. Finally array CGH helped us in confirming the breakpoint regions. In our study we identified and characterized a novel complex Y chromosomal rearrangement with a complete deletion of the Yq region and duplication of the Yp region with one copy being translocated onto the15p arm. This is the first report of novel and unique Y complex rearrangement showing a deletion, duplication and a translocation in the same patient. The possible mechanism of the rearrangement and the phenotype–genotype correlation are discussed.     

The telocentric tandem repeat at the p-arm is not conserved in Mus musculus subspecies

Mouse chromosomes, with the exception of the Y chromosome, are telocentric. The telomere at the p-arm is separated from the centromere by the tL1 sequence and TLC tandem repeats. A previous report showed that the TLC array was also conserved in other strains of the subgenus Mus. These results suggest that the TLC arrays promote the stable evolutionary maintenance of a telocentric karyotype in the subgenus Mus. In this study, we investigated the degree of conservation of TLC arrays among a variety of wild-derived inbred strains, all of which are descendants of wild mice captured in several areas of the world. Genomic PCR analysis indicates that the sequential order of telomere-tL1 is highly conserved in all strains, whereas tL1-TLC is not. Next, Southern blot analysis of DNAs isolated from a panel of mouse subspecies showed both Mus musculus domesticus and Mus musculus castaneus subspecies possess TLC arrays. Unexpectedly, this repeat appears to be lost in almost all Mus musculus musculus and Mus musculus molossinus subspecies, which show a clear geographic divide. These results indicate that either other unknown sequences were replaced by the TLC repeat or almost all M. m. musculus and M. m. molossinus subspecies do not have any sequence between the telomere and minor satellites. Our observation suggests that the TLC array might be evolutionarily unstable and not essential for murine chromosomal conformation. This is the first example of the subspecies-specific large genome alterations in mice.     

Distribution of Streptococcus troglodytae and Streptococcus dentirousetti in chimpanzee oral cavities

The aim of this study was to analyze the distribution and phenotypic properties of the indigenous streptococci in chimpanzee (Pan troglodytes) oral cavities. Eleven chimpanzees (aged from 9 to 44 years, mean ± SD, 26.9 ± 12.6 years) in the Primate Research Institute of Kyoto University were enrolled in this research and brushing bacterial samples collected from them. Streptococci were isolated from the oral cavities of all chimpanzees. The isolates (n = 46) were identified as thirteen species by 16S rRNA genes analysis. The predominant species was Streptococcus sanguinis of mitis streptococci from five chimpanzees (45%). Mutans streptococci were isolated from six chimpanzees (55%). The predominant species in the mutans streptococci were Streptococcus troglodytae from four chimpanzees (36%), this species having been proposed as a novel species by us, and Streptococcus dentirousetti from three chimpanzees (27%). Streptococcus mutans was isolated from one chimpanzee (9%). However, Streptococcus sobrinus, Streptococcus macacae and Streptococcus downei, which are indigenous to human and monkey (Macaca fasciclaris) oral habitats, were not isolated. Of the mutans streptococci, S. troglodytae, S. dentirousetti, and S. mutans possessed strong adherence activity to glass surface.     

Effects of different thermal treatments during embryonic development on the artificial incubation efficiency of crayfish (Austropotamobius pallipes Lereboullet) eggs. Control of the embryogenetic duration and implications for commercial production

Summary

The development and improvement of artificial incubation techniques for freshwater crayfish eggs and their incorporation into the working schedule of breeding centres is of great interest for commercial production. Factors such as the water circulation system, flow rate, thermal treatment, etc., could strongly influence the success of the process. The present study attempts to test the possible influence of one of these variables, the thermal regime, on both the duration of embryonic development and the efficiency rates obtained in the artificial incubation of white-clawed crayfish (Austropotamobius pallipes) eggs. Four different thermal treatments were tested (three of them included a period at low temperature: 4°-5°C). Survival rates to juvenile stage 2 were similar in the four cases, ranging between 66.7 and 72.7%. We conclude that water cooling (an expensive management procedure) is not necessary in astacid breeding centres provided that egg development takes place at moderately low temperatures (8°-10°C) with a subsequent increase of up to 15°C from the eyed stage. However, the inclusion of periods at low temperature (4°-5°C) allows the staggered production of juvenile batches throughout a 3-week period without adverse effects on efficiency rates. This could be useful to breeding centres in meeting seasonal market requirements. In our study, egg and juvenile losses (mortality rate: 15–20%) were concentrated during the last phases of embryogenesis, particularly from the eyed stage to juvenile stage 2, during which they amounted to more than 90% of the overall mortality which took place during the artificial incubation process.