The study of mating systems, defined as the distribution of who mates with whom and how often in a sexually reproducing population, forms a core pillar of evolution research due to their effects on many evolutionary phenomena. Historically, the "mating system" has either been used to refer to the rate of self-fertilization or to the formation of mating pairs between individuals of distinct sexes. Consequently, these two types of mating systems have tended to be studied separately rather than jointly. This separation often means that mating systems are not necessarily researched in a coherent manner that might apply to different types of organisms (e.g., plants versus animals, or hermaphrodites versus dioecious species), even if similar mechanisms may drive the evolution of self-fertilization and mating pair formation. Here, we review the evolution of both plant and animal mating systems, highlighting where similar concepts underlie both these fields and also where differing mechanisms are at play. We particularly focus on the effects of inbreeding, but also discuss the influence of spatial dynamics on mating-system evolution. We end with a synthesis of these different ideas and propose ideas for which concepts can be considered together to move towards a more cohesive approach to studying mating-system evolution.

• Keywords
• Baker’s law, inbreeding, mating system, polygyny, self-fertilization, spatial evolution, transmission advantage,
• MeSH
• Biological Evolution * MeSH
• Plant Physiological Phenomena * MeSH
• Plants * genetics   MeSH
• Reproduction MeSH
• Self-Fertilization MeSH
• Sexual Behavior, Animal * MeSH
• Animals MeSH
• Check Tag
• Animals MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

Flowering plants show significant diversity in sexual strategies, profoundly impacting the evolution of sexual traits and associated genes. Sexual selection is one of the primary evolutionary forces driving sexual trait variation, particularly evident during pollen-pistil interactions, where pollen grains compete for fertilization and females select mating partners. Multiple mating may intensify competition among pollen donors for siring, while in contrast, self-fertilization reduces sire-sire competition, relaxing the sexual selection pressure. Traits involved in male-male competition and female choice are well described, and molecular mechanisms underlying pollen development and pollen-pistil interactions have been extensively studied in the model species Arabidopsis thaliana. However, whether these molecular mechanisms are involved in sexual selection in nature remains unclear. To address this gap, we measured intrinsic pollen performance and its interaction with female choice and investigated the associated gene expression patterns in a selfing and an outcrossing population of Arabidopsis lyrata. We found that pollen germination and pollen tube growth were significantly higher in outcrossers than selfers, and this difference was accompanied by changes in the expression of genes involved in vesicle transport and cytoskeleton. Outcrosser mother plants showed a negative impact on pollen tube growth compared to selfer mother plants, together with a difference of expression for genes involved in auxin and stress response, suggesting a potential mechanism for female choice through molecular cross talk at the post-pollination stage. Our study provides insight into the impact of sexual selection on the evolution of sexual gene expression in plants.

• Keywords
• Natural variation, Pollen development, Pollen–pistil interactions, Selfing transition, Sexual gene expression, Sexual selection,
• MeSH
• Arabidopsis * genetics   physiology   MeSH
• Pollination genetics   MeSH
• Sexual Selection * MeSH
• Pollen genetics   physiology   growth & development   MeSH
• Pollen Tube growth & development   genetics   MeSH
• Gene Expression Regulation, Plant MeSH
• Self-Fertilization genetics   MeSH
• Publication type
• Journal Article MeSH

Restricted range size brings about noteworthy genetic consequences that may affect the viability of a population and eventually its extinction. Particularly, the question if an increase in inbreeding can avert the accumulation of genetic load via purging is hotly debated in the conservation genetic field. Insular populations with limited range sizes represent an ideal setup for relating range size to these genetic factors. Leveraging a set of eight differently sized populations of Galápagos mockingbirds (Mimus), we investigated how island size shaped effective population size (Ne), inbreeding and genetic load. We assembled a genome of M. melanotis and genotyped three individuals per population by whole-genome resequencing. Demographic inference showed that the Ne of most populations remained high after the colonisation of the archipelago 1-2 Mya. Ne decline in M. parvulus happened only 10-20 Kya, whereas the critically endangered M. trifasciatus showed a longer history of reduced Ne. Despite these historical fluctuations, the current island size determines Ne in a linear fashion. In contrast, significant inbreeding coefficients, derived from runs of homozygosity, were identified only in the four smallest populations. The index of additive genetic load suggested purging in M. parvulus, where the smallest populations showed the lowest load. By contrast, M. trifasciatus carried the highest genetic load, possibly due to a recent rapid bottleneck. Overall, our study demonstrates a complex effect of demography on inbreeding and genetic load, providing implications in conservation genetics in general and in a conservation project of M. trifasciatus in particular.

• Keywords
• conservation genetics, demographic inference, genetic diversity, genetic load,
• MeSH
• Genetic Load * MeSH
• Genome * MeSH
• Genotype MeSH
• Population Density MeSH
• Inbreeding * MeSH
• Islands MeSH
• Passeriformes * genetics   MeSH
• Genetics, Population * MeSH
• Conservation of Natural Resources MeSH
• Animals MeSH
• Check Tag
• Animals MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Ecuador MeSH
• Islands MeSH

After a long-distance migration, Avars with Eastern Asian ancestry arrived in Eastern Central Europe in 567 to 568 CE and encountered groups with very different European ancestry1,2. We used ancient genome-wide data of 722 individuals and fine-grained interdisciplinary analysis of large seventh- to eighth-century CE neighbouring cemeteries south of Vienna (Austria) to address the centuries-long impact of this encounter1,2. We found that even 200 years after immigration, the ancestry at one site (Leobersdorf) remained dominantly East Asian-like, whereas the other site (Mödling) shows local, European-like ancestry. These two nearby sites show little biological relatedness, despite sharing a distinctive late-Avar culture3,4. We reconstructed six-generation pedigrees at both sites including up to 450 closely related individuals, allowing per-generation demographic profiling of the communities. Despite different ancestry, these pedigrees together with large networks of distant relatedness show absence of consanguinity, patrilineal pattern with female exogamy, multiple reproductive partnerships (for example, levirate) and direct correlation of biological connectivity with archaeological markers of social status. The generation-long genetic barrier was maintained by systematically choosing partners with similar ancestry from other sites in the Avar realm. Leobersdorf had more biological connections with the Avar heartlands than with Mödling, which is instead linked to another site from the Vienna Basin with European-like ancestry. Mobility between sites was mostly due to female exogamy pointing to different marriage networks as the main driver of the maintenance of the genetic barrier.

• MeSH
• Asian People genetics   MeSH
• White MeSH
• White People genetics   MeSH
• History, Ancient MeSH
• Genome, Human genetics   MeSH
• Culture * MeSH
• Humans MeSH
• Human Migration * history   MeSH
• Consanguinity MeSH
• Reproductive Isolation * MeSH
• Pedigree MeSH
• Reproduction * genetics   MeSH
• DNA, Ancient * analysis   MeSH
• Check Tag
• History, Ancient MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Historical Article MeSH
• Geographicals
• Austria MeSH
• Names of Substances
• DNA, Ancient * MeSH

PURPOSE: Genetic testing in consanguineous families advances the general comprehension of pathophysiological pathways. However, short stature (SS) genetics remain unexplored in a defined consanguineous cohort. This study examines a unique pediatric cohort from Sulaimani, Iraq, aiming to inspire a genetic testing algorithm for similar populations. METHODS: Among 280 SS referrals from 2018-2020, 64 children met inclusion criteria (from consanguineous families; height ≤ -2.25 SD), 51 provided informed consent (30 females; 31 syndromic SS) and underwent investigation, primarily via exome sequencing. Prioritized variants were evaluated by the American College of Medical Genetics and Genomics standards. A comparative analysis was conducted by juxtaposing our findings against published gene panels for SS. RESULTS: A genetic cause of SS was elucidated in 31 of 51 (61%) participants. Pathogenic variants were found in genes involved in the GH-IGF-1 axis (GHR and SOX3), thyroid axis (TSHR), growth plate (CTSK, COL1A2, COL10A1, DYM, FN1, LTBP3, MMP13, NPR2, and SHOX), signal transduction (PTPN11), DNA/RNA replication (DNAJC21, GZF1, and LIG4), cytoskeletal structure (CCDC8, FLNA, and PCNT), transmembrane transport (SLC34A3 and SLC7A7), enzyme coding (CYP27B1, GALNS, and GNPTG), and ciliogenesis (CFAP410). Two additional participants had Silver-Russell syndrome and 1 had del22q.11.21. Syndromic SS was predictive in identifying a monogenic condition. Using a gene panel would yield positive results in only 10% to 33% of cases. CONCLUSION: A tailored testing strategy is essential to increase diagnostic yield in children with SS from consanguineous populations.

• Keywords
• Consanguinity, Genetic testing algorithm, Pediatric endocrinology, Short stature, Short stature genes,
• MeSH
• Algorithms MeSH
• Child MeSH
• Genetic Testing * methods   MeSH
• Humans MeSH
• Adolescent MeSH
• Dwarfism * genetics   epidemiology   diagnosis   MeSH
• Consanguinity MeSH
• Child, Preschool MeSH
• Pedigree MeSH
• Exome Sequencing MeSH
• Body Height genetics   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Iraq epidemiology   MeSH

Obligatory parthenogenesis in vertebrates is restricted to squamate reptiles and evolved through hybridisation. Parthenogens can hybridise with sexual species, resulting in individuals with increased ploidy levels. We describe two successive hybridisations of the parthenogenetic butterfly lizards (genus Leiolepis) in Vietnam with a parental sexual species. Contrary to previous proposals, we document that parthenogenetic L. guentherpetersi has mitochondrial DNA and two haploid sets from L. guttata and one from L. reevesii, suggesting that it is the result of a backcross of a parthenogenetic L. guttata × L. reevesii hybrid with a L. guttata male increasing ploidy from 2n to 3n. Within the range of L. guentherpetersi, we found an adult tetraploid male with three L. guttata and one L. reevesii haploid genomes. It probably originated from fertilisation of an unreduced triploid L. guentherpetersi egg by a L. guttata sperm. Although its external morphology resembles that of the maternal species, it possessed exceptionally large erythrocytes and was likely sterile. As increased ploidy level above triploidy or tetraploidy appears to be harmful for amniotes, all-female asexual lineages should evolve a strategy to prevent incorporation of other haploid genomes from a sexual species by avoiding fertilisation by sexual males.

• Keywords
• Leiolepis, Hybridisation, Meiosis, Parthenogenesis, Tetraploidy, Vietnam,
• MeSH
• Hybridization, Genetic MeSH
• Inbreeding * MeSH
• Lizards * genetics   MeSH
• DNA, Mitochondrial genetics   MeSH
• Parthenogenesis * genetics   MeSH
• Tetraploidy * MeSH
• Triploidy * MeSH
• Animals MeSH
• Check Tag
• Male MeSH
• Female MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Names of Substances
• DNA, Mitochondrial MeSH

Background/Objectives: The domestication of the grey wolf (Canis lupus) and subsequent creation of modern dog breeds have significantly shaped the genetic landscape of domestic canines. This study investigates the genomic effects of hybridization and breeding management practices in two hybrid wolfdog breeds: the Czechoslovakian Wolfdog (CSW) and the Saarloos Wolfdog (SAW). Methods: We analyzed the genomes of 46 CSWs and 20 SAWs, comparing them to 12 German Shepherds (GSHs) and 20 wolves (WLFs), which served as their ancestral populations approximately 70-90 years ago. Results: Our findings highlight that hybridization can increase genetic variability and mitigate the effects of inbreeding, as evidenced by the observed heterozygosity levels in both wolfdog breeds. However, the SAW genome revealed a higher coefficient of inbreeding and longer runs of homozygosity compared to the CSW, reflecting significant inbreeding during its development. Discriminant Analysis of Principal Components and fixation index analyses demonstrate that the CSW exhibits closer genetic proximity to the GSH than the SAW, likely due to differences in the numbers of GSHs used during their creation. Maximum likelihood clustering further confirmed clear genetic differentiation between these hybrid breeds and their respective ancestors, while shared ancestral polymorphism was detectable in all populations. Conclusions: These results highlight the role of controlled hybridization with captive-bred wolves and peculiar breeding strategies in shaping the genetic structure of wolfdog breeds. To ensure the long-term genetic health of these breeds, it is recommended to promote adequate and sustainable breeding practices to maintain genetic diversity, minimize inbreeding, and incorporate the careful selection of unrelated individuals from diverse lineages, while avoiding additional, uncontrolled crossings with wild wolves.

• Keywords
• artificial selection, heterosis, hybridization, inbreeding, wolfdog,
• MeSH
• Breeding MeSH
• Domestication MeSH
• Genetic Variation MeSH
• Genome * MeSH
• Genomics methods   MeSH
• Animals, Domestic * genetics   MeSH
• Hybridization, Genetic * MeSH
• Inbreeding MeSH
• Dogs genetics   MeSH
• Selection, Genetic * MeSH
• Wolves * genetics   MeSH
• Animals MeSH
• Check Tag
• Dogs genetics   MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH

INTRODUCTION: Pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome is a rare disease, and part of the cluster histiocytosis-lymphadenopathy plus syndrome (H syndrome), which is associated with mutations in the SLC29A3 gene. Patients with PHID show clinical features of H syndrome but also have insulin-dependent diabetes mellitus. The PHID has previously been described as predominantly in absence of pancreatic autoantibodies. Case Series Presentation: Through an open call in two international diabetes registers, clinical and genetic characteristics of 7 PHID patients in 6 treatment centres were collected after informed consent. All of them had consanguinity in their families, and their origins were located in North-African and Middle Eastern regions. Four out of 7 patients had at least one positive pancreatic autoantibody. DISCUSSION AND CONCLUSION: Our case series reveals that PHID exhibits a wide range of clinical symptoms and signs. When consanguinity is present in a patient with newly diagnosed diabetes, and/or if other atypical symptoms such as dysmorphic features, skin lesions, haematological abnormalities, and developmental delay are present, threshold for genetic analysis should be low. Moreover, the presence of autoantibodies should not withhold genetic testing as our case series contradicts the previous observation of predominant autoantibody absence in PHID.

• Keywords
• Autoantibodies, Diabetes, H syndrome, PHID syndrome, SLC29A3,
• MeSH
• Autoantibodies blood   MeSH
• Diabetes Mellitus, Type 1 * genetics   pathology   complications   MeSH
• Hypertrichosis * genetics   pathology   complications   MeSH
• Humans MeSH
• Mutation MeSH
• Consanguinity MeSH
• Nucleoside Transport Proteins * genetics   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH
• Names of Substances
• Autoantibodies MeSH
• Nucleoside Transport Proteins * MeSH
• SLC29A3 protein, human MeSH Browser

From AD 567-568, at the onset of the Avar period, populations from the Eurasian Steppe settled in the Carpathian Basin for approximately 250 years1. Extensive sampling for archaeogenomics (424 individuals) and isotopes, combined with archaeological, anthropological and historical contextualization of four Avar-period cemeteries, allowed for a detailed description of the genomic structure of these communities and their kinship and social practices. We present a set of large pedigrees, reconstructed using ancient DNA, spanning nine generations and comprising around 300 individuals. We uncover a strict patrilineal kinship system, in which patrilocality and female exogamy were the norm and multiple reproductive partnering and levirate unions were common. The absence of consanguinity indicates that this society maintained a detailed memory of ancestry over generations. These kinship practices correspond with previous evidence from historical sources and anthropological research on Eurasian Steppe societies2. Network analyses of identity-by-descent DNA connections suggest that social cohesion between communities was maintained via female exogamy. Finally, despite the absence of major ancestry shifts, the level of resolution of our analyses allowed us to detect genetic discontinuity caused by the replacement of a community at one of the sites. This was paralleled with changes in the archaeological record and was probably a result of local political realignment.

• MeSH
• Archaeology * methods   MeSH
• Family Characteristics * ethnology   history   MeSH
• History, Medieval MeSH
• Adult MeSH
• Genomics MeSH
• Cemeteries history   MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Grassland * MeSH
• Consanguinity MeSH
• Politics MeSH
• Pedigree * MeSH
• DNA, Ancient * analysis   MeSH
• Check Tag
• History, Medieval MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Historical Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Asia ethnology   MeSH
• Europe ethnology   MeSH
• Names of Substances
• DNA, Ancient * MeSH

AIMS/HYPOTHESIS: Monogenic diabetes is estimated to account for 1-6% of paediatric diabetes cases in primarily non-consanguineous populations, while the incidence and genetic spectrum in consanguineous regions are insufficiently defined. In this single-centre study we aimed to evaluate diabetes subtypes, obtain the consanguinity rate and study the genetic background of individuals with syndromic and neonatal diabetes in a population with a high rate of consanguinity. METHODS: Data collection was carried out cross-sectionally in November 2021 at the paediatric diabetic clinic, Dr Jamal Ahmad Rashed Hospital, in Sulaimani, Kurdistan, Iraq. At the time of data collection, 754 individuals with diabetes (381 boys) aged up to 16 years were registered. Relevant participant data was obtained from patient files. Consanguinity status was known in 735 (97.5%) participants. Furthermore, 12 families of children with neonatal diabetes and seven families of children with syndromic diabetes consented to genetic testing by next-generation sequencing. Prioritised variants were evaluated using the American College of Medical Genetics and Genomics guidelines and confirmed by Sanger sequencing. RESULTS: A total of 269 of 735 participants (36.5%) with known consanguinity status were offspring of consanguineous families. An overwhelming majority of participants (714/754, 94.7%) had clinically defined type 1 diabetes (35% of them were born to consanguineous parents), whereas only eight (1.1%) had type 2 diabetes (38% consanguineous). Fourteen (1.9%) had neonatal diabetes (50% consanguineous), seven (0.9%) had syndromic diabetes (100% consanguineous) and 11 (1.5%) had clinically defined MODY (18% consanguineous). We found that consanguinity was significantly associated with syndromic diabetes (p=0.0023) but not with any other diabetes subtype. The genetic cause was elucidated in ten of 12 participants with neonatal diabetes who consented to genetic testing (homozygous variants in GLIS3 [sibling pair], PTF1A and ZNF808 and heterozygous variants in ABCC8 and INS) and four of seven participants with syndromic diabetes (homozygous variants in INSR, SLC29A3 and WFS1 [sibling pair]). In addition, a participant referred as syndromic diabetes was diagnosed with mucolipidosis gamma and probably has type 2 diabetes. CONCLUSIONS/INTERPRETATION: This unique single-centre study confirms that, even in a highly consanguineous population, clinically defined type 1 diabetes is the prevailing paediatric diabetes subtype. Furthermore, a pathogenic cause of monogenic diabetes was identified in 83% of tested participants with neonatal diabetes and 57% of participants with syndromic diabetes, with most variants being homozygous. Causative genes in our consanguineous participants were markedly different from genes reported from non-consanguineous populations and also from those reported in other consanguineous populations. To correctly diagnose syndromic diabetes in consanguineous populations, it may be necessary to re-evaluate diagnostic criteria and include additional phenotypic features such as short stature and hepatosplenomegaly.

• Keywords
• Consanguineous population, Consanguinity, Diabetes genes, Genetics, Monogenic diabetes, Neonatal diabetes, Paediatric diabetes, Syndromic diabetes,
• MeSH
• Diabetes Mellitus, Type 1 * epidemiology   genetics   MeSH
• Diabetes Mellitus, Type 2 * epidemiology   genetics   diagnosis   MeSH
• Child MeSH
• Cohort Studies MeSH
• Humans MeSH
• Mutation genetics   MeSH
• Infant, Newborn, Diseases * genetics   MeSH
• Infant, Newborn MeSH
• Consanguinity MeSH
• Nucleoside Transport Proteins genetics   MeSH
• Aged MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Male MeSH
• Infant, Newborn MeSH
• Aged MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Iraq epidemiology   MeSH
• Names of Substances
• Nucleoside Transport Proteins MeSH
• SLC29A3 protein, human MeSH Browser