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The marsupial moles are arguably Australia's most enigmatic marsupials. Almost indistinguishable from placental (eutherian) moles, they provide a striking example of convergent evolution. Exploring the genome of the southern marsupial mole, we provide insights into its unusual biology. We show definitively by retrophylogenomic analysis that marsupial moles are most closely related to bandicoots and bilbies (order Peramelemorphia). We find evidence of a marked decline in marsupial mole effective population size, most likely preceding the arrival of humans in regions near its range, and potentially corresponding to periods of climatic change. Our analysis of loss of eye function-an adaptation to subterranean life-reveals a structured order of loss of gene function associated first with the lens, then cone, and finally rod cells. Last, we identify genetic changes suggestive of adaptation to an oxygen-poor environment and of its evolution of partially descended testes.

The eastern quoll (Dasyurus viverrinus) is an endangered marsupial native to Australia. Since the extirpation of its mainland populations in the 20th century, wild eastern quolls have been restricted to two islands at the southern end of their historical range. Eastern quolls are the subject of captive breeding programs and attempts have been made to re-establish a population in mainland Australia. However, few resources currently exist to guide the genetic management of this species. Here, we generated a reference genome for the eastern quoll with gene annotations supported by multi-tissue transcriptomes. Our assembly is among the most complete marsupial genomes currently available. Using this assembly, we infer the species' demographic history, identifying potential evidence of a long-term decline beginning in the late Pleistocene. Finally, we identify a deletion at the ASIP locus that likely underpins pelage color differences between the eastern quoll and the closely related Tasmanian devil (Sarcophilus harrisii)., (© 2024. The Author(s).)

Marsupials exhibit distinctive modes of reproduction and early development that set them apart from their eutherian counterparts and render them invaluable for comparative studies. However, marsupial genomic resources still lag far behind those of eutherian mammals. We present a series of novel genomic resources for the fat-tailed dunnart ( Sminthopsis crassicaudata ), a mouse-like marsupial that, due to its ease of husbandry and ex-utero development, is emerging as a laboratory model. We constructed a highly representative multi-tissue de novo transcriptome assembly of dunnart RNA-seq reads spanning 12 tissues. The transcriptome includes 2,093,982 assembled transcripts and has a mammalian transcriptome BUSCO completeness score of 93.3%, the highest amongst currently published marsupial transcriptomes. This global transcriptome, along with ab initio predictions, supported annotation of the existing dunnart genome, revealing 21,622 protein-coding genes. Altogether, these resources will enable wider use of the dunnart as a model marsupial and deepen our understanding of mammalian genome evolution., Competing Interests: The authors declare that they have no competing interests., (© The Author(s) 2024.)

Introduction: During early development in most male mammals the testes move from a position near the kidneys through the abdomen to eventually reside in the scrotum. The transabdominal phase of this migration is driven by insulin-like peptide 3 (INSL3) which stimulates growth of the gubernaculum, a key ligament connecting the testes with the abdominal wall. While all marsupials, except the marsupial mole ( Notoryctes typhlops ), have a scrotum and fully descended testes, it is unclear if INSL3 drives this process in marsupials especially given that marsupials have a different mechanism of scrotum determination and position relative to the phallus compared to eutherian mammals. Methods: To understand if INSL3 plays a role in marsupial testicular descent we have sequenced and curated the INSL3 gene and its receptor ( RXFP2 ) in a range of marsupials representing every order. Furthermore, we looked at single cell RNA-seq and qPCR analysis of INSL3 in the fat-tailed dunnart testis ( Sminthopsis crassicaudata ) to understand the location and timing of expression during development. Results: These data show a strong phylogenetic similarity between marsupial and eutherian orthologues, but not with monotreme INSL3s which were more similar to the ancestral RLN3 gene. We have also shown the genomic location of INSL3 , and surrounding genes is conserved in a range of marsupials and eutherians. Single cell RNA-seq and qPCR data show that INSL3 mRNA is expressed specifically in Leydig cells and expressed at higher levels during the testicular descent phase in developing marsupials. Discussion: Together, these data argue strongly for a therian origin of INSL3 mediated testicular descent in mammals and suggests that a coordinated movement of the testes to the abdominal wall may have preceded externalization in marsupials and therian mammals., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Menzies, Tarulli, Frankenberg and Pask.)

The support of pluripotent cells over time is an essential feature of development. In eutherian embryos, pluripotency is maintained from naïve states in peri-implantation to primed pluripotency at gastrulation. To understand how these states emerged, we reconstruct the evolutionary trajectory of the Pou5 gene family, which contains the central pluripotency factor OCT4. By coupling evolutionary sequence analysis with functional studies in mouse embryonic stem cells, we find that the ability of POU5 proteins to support pluripotency originated in the gnathostome lineage, prior to the generation of two paralogues, Pou5f1 and Pou5f3 via gene duplication. In osteichthyans, retaining both genes, the paralogues differ in their support of naïve and primed pluripotency. The specialization of these duplicates enables the diversification of function in self-renewal and differentiation. By integrating sequence evolution, cell phenotypes, developmental contexts and structural modelling, we pinpoint OCT4 regions sufficient for naïve pluripotency and describe their adaptation over evolutionary time., (© 2022. The Author(s).)

Dental development has been used to assess whether an individual may be below or above an age that serves as a legal threshold. This study used development of the first and second mandibular molars from a large sample of individuals (N = 2,676) to examine the age threshold for minimum age of criminal responsibility. A bivariate ordered probit model was applied to dental scores following the Moorrees et al. (1963) system, with the addition of a crypt-absent/present stage. Then a 10-fold cross-validation within each of the sexes showed that the bivariate models produce unbiased estimates of age but are heteroskedastic (with increasing spread of the estimates against actual age). To address the age threshold problem, a normal prior centered on the threshold is assumed, and the product of the prior and the likelihood is integrated up to the age threshold and again starting at the age threshold. The ratio of these two integrals is a Bayes factor, which because the prior is symmetric around the threshold, can also be interpreted as the posterior odds that an individual is over versus under the age threshold. It was necessary to assume an unreasonably high standard deviation of age in the prior to achieve posterior odds that were well above "evens." These results indicate that dental developmental evidence from the first and second molars is of limited use in examining the question of whether an individual is below or over the minimum age of criminal responsibility. As the third molar is more variable in its development than the first two molars, the question of dental evidence regarding the age of majority (generally 18 years) remains problematic.

The completion of the third molar roots has played an important role in ascertaining whether individuals may be at or over a legal threshold of age, often taken as 18 years. This study demonstrates that root apex completion in the third molar is relatively uninformative regarding the threshold of age 18 years in a sample of 1184 males, where mean age-of-attainment of root apex completion for third mandibular molars is about 19.4 years. This paper also considers the legal age threshold problem for cases where the third mandibular molar is not completely formed, and outlines the use of parametric models and Bayes' factors to evaluate dental evidence in statistically appropriate ways. It attempts to resolve confusion over age-within-stage versus age-of-attainment, likelihood ratios versus other diagnostic tests, and prior odds for a case versus the prior density for an age distribution., (© 2018 American Academy of Forensic Sciences.)

While discriminant function analysis is an inherently Bayesian method, researchers attempting to estimate ancestry in human skeletal samples often follow discriminant function analysis with the calculation of frequentist-based typicalities for assigning group membership. Such an approach is problematic because it fails to account for admixture and for variation in why individuals may be classified as outliers or nonmembers of particular groups. This article presents an argument and methodology for employing a fully Bayesian approach in discriminant function analysis applied to cases of ancestry estimation. The approach requires adding the calculation, or estimation, of predictive distributions as the final step in ancestry-focused discriminant analyses. The methods for a fully Bayesian multivariate discriminant analysis are illustrated using craniometrics from identified population samples within the Howells published data. The article also presents ways to visualize predictive distributions calculated in more than three dimensions, explains the limitations of typicality measures, and suggests an analytical route for future studies of ancestry and admixture based in discriminant function analysis.

The first sign of mammalian germ cell sexual differentiation is the initiation of meiosis in females and of mitotic arrest in males. In the mouse, retinoic acid induces ovarian Stra8 expression and entry of germ cells into meiosis. In developing mouse testes, cytochrome P450 family 26, subfamily b, polypeptide 1 (CYP26B1) produced by the Sertoli cells degrades retinoic acid, preventing Stimulated by Retinoic Acid Gene 8 (Stra8), expression and inhibiting meiosis. However, in developing humans, there is no evidence that CYP26B1 acts a meiosis-inhibiting factor. We therefore examined aspects of the retinoic acid/STRA8/CYP26B1 pathway during gonadal development in the tammar wallaby, a marsupial, to understand whether retinoic acid stimulation of STRA8 and CYP26B1 degradation of retinoic acid was conserved between widely divergent mammals. In tammar ovaries, as in human ovaries and unlike the pattern in mice, CYP26B1 expression was not downregulated before the onset of meiosis. Exposure of pre-meiotic tammar ovaries to exogenous retinoic acid in vitro upregulated STRA8 expression compared to controls. We conclude that retinoic acid and STRA8 are conserved factors that control the initiation of meiosis amongst mammals but the role of CYP26B1 as a meiosis-inhibiting factor may be specific to rodents. The identity of the marsupial meiosis-inhibiting factor remains unknown., (© The Authors 2017. Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Embryonic diapause is a period of developmental arrest which requires coordination of a molecular cross-talk between the endometrium and blastocyst to ensure a successful reactivation, but the exact mechanisms are undefined. The objectives of this study were to screen the tammar blastocyst for potential diapause control factors and to investigate the potential for members of the epidermal growth factor (EGF) family to coordinate reactivation. A select number of factors were also examined in the mink to determine whether their expression patterns were conserved across diapause species. The full-length sequences of the tammar genes of interest were first cloned to establish their level of sequence conservation with other mammals. The uterine expression of EGF family members EGF and heparin-binding EGF (HBEGF) and their receptors (EGFR and erb-b2 receptor tyrosine kinase 4 (ERBB4)) was determined by quantitative reverse-transcriptase polymerase chain reaction (RT-PCR) and immunohistochemistry. Both HBEGF and EGF were significantly upregulated at reactivation compared to diapause. In the blastocyst, the expression of the potential diapause factors Forkhead box class O family members (FOXO1, FOXO3, and FOXO4), tumor protein 53 (TP53), cyclin-dependent kinase inhibitor 1A (CDKN1A), and the EGF family were examined by RT-PCR and immunofluorescence. Nuclear (and hence active) FOXO expression was confirmed for the first time in a mammalian diapause blastocyst in both the tammar and the mink-CDKN1A was also expressed, but TP53 is not involved and EGFR was not detected in the blastocyst. These results indicate that the EGF family, FOXOs, and CDKN1A are promising candidates for the molecular control of embryonic diapause in mammals., (© The Authors 2017. Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Understanding the mechanisms underlying the first cell differentiation events in human preimplantation development is fundamental for defining the optimal conditions for IVF techniques and selecting the most viable embryos for further development. However, our comprehension of the very early events in development is still very limited. Moreover, our knowledge on early lineage specification comes primarily from studying the mouse model. It is important to recognize that although mammalian embryos share similar morphological landmarks, the timing and molecular control of developmental events may vary substantially between species. Mammalian blastocysts comprise three cell types that arise through two sequential rounds of binary cell fate decisions. During the first decision, cells located on the outside of the developing embryo form a precursor lineage for the embryonic part of the placenta: the trophectoderm and cells positioned inside the embryo become the inner cell mass (ICM). Subsequently, ICM cells differentiate into embryonic lineages that give rise to a variety of tissues in the developing foetus: either the epiblast or extraembryonic primitive endoderm. Successful formation of all three lineages is a prerequisite for implantation and development to term. A comprehensive understanding of the lineage specification processes in mammals is therefore necessary to shed light on the causes of early miscarriages and early pregnancy pathologies in humans., (© The Author 2016. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Objectives: Little attention has been paid to questions about the applicability of parametric models to age estimation data and the related problem of how to adjust trait scoring in light of potential deviations from particular parametric models. This article addresses this deficit., Methods: A Lagrange multiplier goodness-of-fit test is applied to two datasets to address the question of whether or not attainment ages for stages are log-normally distributed. The first dataset used in this article consists of scores of the Todd ten-phase system for the pubic symphysis obtained from 938 individuals with known ages. The second dataset consists of scores for 15 stages of formation for the second mandibular molar scored in 2,304 individuals of known age., Results: For the Todd ten-phase system there is a significant departure from log-normally distributed ages of attainment. To obtain an acceptable goodness-of-fit statistic, Todd scores consequently are collapsed into an eight-phase system that maintains scores I through VII as individual scores but combines phases VIII through X into one phase. The 15-stage scoring system for the second mandibular molar has an acceptable fit to the log-normal distribution for ages of attainment., Conclusions: The results from the analysis of the Todd pubic symphysis scores show that researchers should use goodness-of-fit tests for parametric models before deciding to collapse scores. Further, such goodness-of-fit tests are an essential tool in answering questions concerning the suitability of various parametric models. For the 15-stage scoring of the second mandibular molar, the log-normal model is appropriate for attainment ages., (© 2015 Wiley Periodicals, Inc.)

The blastocyst is a mammalian invention that carries the embryo from cleavage to gastrulation. For such a simple structure, it exhibits remarkable diversity in its mode of formation, morphology, longevity, and intimacy with the uterine endometrium. This review explores this diversity in the light of the evolution of viviparity, comparing the three main groups of mammals: monotremes, marsupials, and eutherians. The principal drivers in blastocyst evolution were loss of yolk coupled with evolution of the placenta. An important outcome of blastocyst development is differentiation of two extraembryonic lineages (trophoblast and hypoblast) that contribute to the placenta. While in many species trophoblast segregation is often coupled with blastocyst formation, in marsupials and at least some Afrotherians, these events do not coincide. Thus, many questions regarding the conservation of molecular mechanisms controlling these events are of great interest but currently unresolved. For further resources related to this article, please visit the WIREs website., (© 2016 Wiley Periodicals, Inc.)

Pluripotency is well defined functionally but ambiguously defined at the molecular level. In this issue of Developmental Cell, Boroviak and colleagues (2015) use a multi-species approach to differentiate between fundamental features of pluripotency in mammals and those that exhibit evolutionary plasticity., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Major histocompatibility complex class I molecules (MHC-I) are expressed at the cell surface and are responsible for the presentation of self and non-self antigen repertoires to the immune system. Eutherian mammals express both classical and non-classical MHC-I molecules in the placenta, the latter of which are thought to modulate the maternal immune response during pregnancy. Marsupials last shared a common ancestor with eutherian mammals such as humans and mice over 160 million years ago. Since, like eutherians, they have an intra-uterine development dependent on a placenta, albeit a short-lived and less invasive one, they provide an opportunity to investigate the evolution of MHC-I expression at the fetal-maternal interface. We have characterised MHC-I mRNA expression in reproductive tissues of the tammar wallaby (Macropus eugenii) from the time of placental attachment to day 25 of the 26.5 day pregnancy. Putative classical MHC-I genes were expressed in the choriovitelline placenta, fetus, and gravid endometrium throughout the whole of this period. The MHC-I classical sequences were phylogenetically most similar to the Maeu-UC (50/100 clones) and Maeu-UA genes (7/100 clones). Expression of three non-classical MHC-I genes (Maeu-UD, Maeu-UK and Maeu-UM) were also present in placental samples. The results suggest that expression of classical and non-classical MHC-I genes in extant marsupial and eutherian mammals may have been necessary for the evolution of the ancestral therian placenta and survival of the mammalian fetus at the maternal-fetal interface.

The pluripotency factor POU5F1 (OCT4) is well known as a key regulator of stem cell fate. Homologues of POU5F1 exist throughout vertebrates, but the evolutionary and functional relationships between the various family members have been unclear. The level to which function has been conserved within this family provides insight into the evolution of early embryonic potency. Here, we seek to clarify the relationship between POU5F1 homologues in the vertebrate lineage, both phylogenetically and functionally. We resolve the confusion over the identity of the zebrafish gene, which was originally named pou2, then changed to pou5f1 and again, more recently, to pou5f3. We argue that the use of correct nomenclature is crucial when discussing the degree to which the networks regulating early embryonic differentiation are conserved., (© 2014. Published by The Company of Biologists Ltd.)

In this article, we both contend and illustrate that biological anthropologists, particularly in the Americas, often think like Bayesians but act like frequentists when it comes to analyzing a wide variety of data. In other words, while our research goals and perspectives are rooted in probabilistic thinking and rest on prior knowledge, we often proceed to use statistical hypothesis tests and confidence interval methods unrelated (or tenuously related) to the research questions of interest. We advocate for applying Bayesian analyses to a number of different bioanthropological questions, especially since many of the programming and computational challenges to doing so have been overcome in the past two decades. To facilitate such applications, this article explains Bayesian principles and concepts, and provides concrete examples of Bayesian computer simulations and statistics that address questions relevant to biological anthropology, focusing particularly on bioarchaeology and forensic anthropology. It also simultaneously reviews the use of Bayesian methods and inference within the discipline to date. This article is intended to act as primer to Bayesian methods and inference in biological anthropology, explaining the relationships of various methods to likelihoods or probabilities and to classical statistical models. Our contention is not that traditional frequentist statistics should be rejected outright, but that there are many situations where biological anthropology is better served by taking a Bayesian approach. To this end it is hoped that the examples provided in this article will assist researchers in choosing from among the broad array of statistical methods currently available., (Copyright © 2013 Wiley Periodicals, Inc.)

Background: We present the genome sequence of the tammar wallaby, Macropus eugenii, which is a member of the kangaroo family and the first representative of the iconic hopping mammals that symbolize Australia to be sequenced. The tammar has many unusual biological characteristics, including the longest period of embryonic diapause of any mammal, extremely synchronized seasonal breeding and prolonged and sophisticated lactation within a well-defined pouch. Like other marsupials, it gives birth to highly altricial young, and has a small number of very large chromosomes, making it a valuable model for genomics, reproduction and development., Results: The genome has been sequenced to 2 × coverage using Sanger sequencing, enhanced with additional next generation sequencing and the integration of extensive physical and linkage maps to build the genome assembly. We also sequenced the tammar transcriptome across many tissues and developmental time points. Our analyses of these data shed light on mammalian reproduction, development and genome evolution: there is innovation in reproductive and lactational genes, rapid evolution of germ cell genes, and incomplete, locus-specific X inactivation. We also observe novel retrotransposons and a highly rearranged major histocompatibility complex, with many class I genes located outside the complex. Novel microRNAs in the tammar HOX clusters uncover new potential mammalian HOX regulatory elements., Conclusions: Analyses of these resources enhance our understanding of marsupial gene evolution, identify marsupial-specific conserved non-coding elements and critical genes across a range of biological systems, including reproduction, development and immunity, and provide new insight into marsupial and mammalian biology and genome evolution.

In 1992 in this Journal (Konigsberg and Frankenberg [1992] Am. J. Phys. Anthropol. 89:235-256), we wrote about the use of maximum likelihood methods for the "estimation of age structure in anthropological demography." More specifically, we presented a particular method (the "iterated age-length key") from the fisheries literature and suggested that the method could be used in human and primate demography and paleodemography as well. In our paper (section titled "Some Future Directions"), we spelled out two broad areas that we expected to see develop over the ensuing years. First, we felt that the use of explicit likelihood methods would open up interest in basic estimation issues, such as the calculation of standard errors for demographic estimates and the formulation of tests for whether samples differed in their demographic structure. Second, we felt that the time was ripe for hazards analyses that would incorporate the uncertainty in estimation that follows from using age "indicators" rather than known ages. While some of these developments have occurred during the last decade, few have been reported in the American Journal of Physical Anthropology. In this paper we resolve some issues from our 1992 paper, and attempt to redress this deficit in the literature by reviewing some recent developments in paleodemography over the past decade., (Copyright 2002 Wiley-Liss, Inc.)

The past decade has produced considerable debate over the feasibility of paleodemographic research, with much attention focusing on the question of reliability of age estimates. We show here that in cases where age is estimated rather than known, the traditional method of assigning individuals to age classes will produce biased estimates of age structure. We demonstrate the effect of this bias both mathematically and by computer simulation, and show how a more appropriate method from the fisheries literature (the "iterated age length key") can be used to estimate age structure. Because it is often the case that ages are also estimated for extant groups, we suggest that our results are relevant to the general field of anthropological demography, and that it is time for us to improve the statistical basis for age structure estimation. We further suggest that the oft noted paucity of older individuals in skeletal collections is a simple result of the use of inappropriate methods of age estimation, and that this problem can be rectified in the future by using maximum likelihood estimates of life table or hazard functions incorporating the uncertainty of age estimates.

Potential mates analysis is difficult to apply to small historic populations that lack clear boundaries or regular vital event registration. Here I analyze the actual mate pool as an alternative way to identify causes of nonrandom mating when unmarried members are unknown. Factors influencing mate choice within a historic eastern Blue Ridge community in Madison County, Virginia, are examined for four marriage cohorts: 1850-1879, 1880-1899, 1900-1919, and 1920-1939. These factors include nuclear kin avoidance, preferred age differences between mates, and preferences for more distant kin. A simulation is used to recombine members of the cohort-specific pools of married individuals to generate the probabilities of various types of kin marriages. The pedigree and vital statistics data are derived from first-time marriage licenses filled by community members in Madison County from 1794 to 1939. The numbers of marriages examined for each cohort are 88, 120, 132, and 132, respectively; the mate pools constructed from the samples are viewed from the female perspective. The results generated by simulation on the actual mate pools consist of mean kinship coefficients, numbers of marriages between "allowed" kin types, and probabilities of these values when marriage is random with respect to kinship. The results indicate significantly high levels of inbreeding in all four marriage cohorts, primarily because of high levels of first-cousin marriages in the first three cohorts and of first-cousin once-removed marriages in the 1920 cohort. The observed mating patterns are discussed in terms of the social history of the Blue Ridge community and restrictions of the data.

Biological distance analysis, the dominant type of skeletal biological research during the 19th century, has become less visible in recent years. Although the proportion of American Journal of Physical Anthropology articles and published abstracts focusing on biodistance has remained fairly constant over the three decades between 1955 and 1985, the proportion of biodistance contributions relative to other skeletal biology studies has decreased. Emphasis in skeletal biology has shifted from the analysis of biological variation to investigations of health and diet, and within biodistance studies methodological issues have assumed prominence over purely analytical approaches. This paper investigates trends in biological distance analysis through a survey of articles and meetings abstracts published in the American Journal of Physical Anthropology from 1955 to 1985. The survey provides the historical context for five symposium papers on skeletal biological distance presented at the 1986 meeting of the American Association of Physical Anthropologists.