Genetic Genealogy Uncovers a Founder Deletion Mutation in the Cerebral Cavernous Malformations 2 Gene

Cerebral cavernous malformations (CCM) are vascular malformations consisting of collections of enlarged capillaries occurring in the brain or spinal cord. These vascular malformations can occur sporadically or susceptibility to develop these can be inherited as an autosomal dominant trait due to mutation in one of three genes. Over a decade ago, we described a 77.6 Kb germline deletion spanning exons 2-10 in the CCM2 gene found in multiple affected individuals from seemingly unrelated families. Segregation analysis using linked, microsatellite markers indicated that this deletion may have arisen at least twice independently. In the ensuing decades, many more CCM patients have been identified with this deletion. In this present study we examined 27 reportedly unrelated affected individuals with this deletion. To investigate the origin of the deletion at base pair level resolution, we sequenced approximately 10 Kb upstream and downstream from the recombination junction on the deleted allele. All patients showed the identical SNP haplotype across this combined 20 Kb interval. In parallel, genealogical records have traced 11 of these individuals to five separate pedigrees dating as far back as the 1600-1700’s. These haplotype and genealogical data suggest that these families and the remaining “unrelated” samples converge on a common ancestor due to a founder mutation occurring centuries ago on the North American continent. We also note that another gene, NACAD, is included in this deletion. Although patient self-reporting does not indicate an apparent phenotypic consequence for heterozygous deletion of NACAD, further investigation is warranted for these patients.

Kept in the Family: Remarriage, Siblings, and Consanguinity in the Netherlands

Widowhood involves many practical challenges next to the emotional impact of bereavement. Remarriage to a blood relative of a deceased spouse can often help a bereaved spouse to solve issues related to inheritance, child care, and comfort in a stressful period. A study of 15,540 widowers and 18,837 widows in the Dutch province of Zeeland—of whom about 8,000 men and 5,000 women eventually remarried—which uses genealogical data about their partners and the links family-reconstitution database, finds that the relatively high likelihood of farmers’ widows remarrying and doing so with kin may have been a strategy to prevent property from falling into the hands of other families. Notwithstanding that the attractiveness of a widow or widower could also be a factor in opportunities to remarry, older widows and widows with many young children, whose chances on the remarriage market tended to be poor, did not usually have such recourse to kin in remarriage.

Dział dóbr między Noskowskimi linii łęczyńskiej z roku 1653 oraz uzupełnienia do ich genealogii

Artykuł jest uzupełnieniem rozważań na temat genealogii Noskowskich h. Łada, właścicieli Łęcznej, opublikowanych w 2013 r. Podstawą do nich jest dział dóbr pomiędzy synami podkomorzego lubelskiego Adama Noskowskiego, dokonany w 1653 r., po śmierci jego żony Katarzyny z Firlejów. Poczynione ustalenia wnoszą nowe fakty do naszej wiedzy na temat rodziny wywodzącej się z Mazowsza i osiadłej w województwie lubelskim w XVI w. The Noskowski of the Łada Coat of Arms. Complements to the Genealogy of the Family of the Łęczna Lineage The noble Noskowski family bearing the Łada coat of arms, who settled in the Lublin province (voivodship) in the 16th century, were the owners of Łęczna from that mid-century until the 1670s. The present paper presents the biographical profiles of three generations of its members. They are the persons whose basic genealogical data have already been presented in literature on the subject (e.g. Adam Noskowski and his sons Jan Karol and Adam Kazimierz), as well as new ones, whose personal dossiers have been collected based on extended search (Andrzej Noskowski, starost of Maków and Różan and Anna Noskowska née Tarło). The presented information complements the existing findings on the family but it also contributes new items, which clear the doubts about for example the second marriage of Anna née Tarło, or about the descent of Adam Noskowski, whom historians long regarded as a descendant of Adam Kazimierz Noskowski. Moreover, the study emphasizes the fact of the history of the family in 1653–1656, when most of its members, especially men, died out, thereby ending the Noskowski family line. The article also contains an appendix containing the publication of the division of estates carried out in 1653 between Jan Karol Noskowski and Adam Kazimierz Noskowski, sons of Adam Noskowski, the Lublin chamberlain.

From Alba to Aotearoa: Profiling New Zealand's Scots Migrants, 1840-1920

<p><b>While New Zealand has been described as more Scottish than any other country beyond Scotland, and Scots consistently made up nearly 20 per cent of the immigrant population of New Zealand to 1920, as a group New Zealand's Scots migrants have remained relatively blurred. The distinctive national backgrounds of New Zealand's British migrants have seldom been recognised in general histories or in specialist studies of migration to the country, migrants having tended to be categorised as 'British' and 'Non-British', leading to what Akenson aptly described as the 'lumpingof all white settlers into a spurious unity.' This thesis, conceived as part of a larger research project investigating the experiences and contributions of Scots in New Zealand, seeks to establish key characteristics of the Scottish migrants arriving between 1840 and 1920. Five core questions are addressed: 'from where in Scotland did they come?', 'who came?', 'when?', 'in what numbers?', and 'where did they settle?'.</b></p> <p>While previous studies have suggested partial answers to some of these questions, the present research offers a more full and detailed profile of New Zealand's Scots migrants than has previously been available. Critically, it takes the earlier findings further. Though the investigation has been based primarily upon statistical analysis ofa genealogically-sourced database of 6,612 migrants, quantitative analysis has beensupplemented by qualitative case studies. Comparison with a second set of data derived from death certificates has enabled a testing of the validity of genealogical data as a source for migration studies. In addition to the five central questions around which the thesis is structured, the study also addresses issues of internal migration within Scotland, emigration to otherdestinations prior to arrival in New Zealand, individual and generational occupationalmobility, chain and cluster migration among Shetland migrants, and return migration.</p>

From Alba to Aotearoa: Profiling New Zealand's Scots Migrants, 1840-1920

<p><b>While New Zealand has been described as more Scottish than any other country beyond Scotland, and Scots consistently made up nearly 20 per cent of the immigrant population of New Zealand to 1920, as a group New Zealand's Scots migrants have remained relatively blurred. The distinctive national backgrounds of New Zealand's British migrants have seldom been recognised in general histories or in specialist studies of migration to the country, migrants having tended to be categorised as 'British' and 'Non-British', leading to what Akenson aptly described as the 'lumpingof all white settlers into a spurious unity.' This thesis, conceived as part of a larger research project investigating the experiences and contributions of Scots in New Zealand, seeks to establish key characteristics of the Scottish migrants arriving between 1840 and 1920. Five core questions are addressed: 'from where in Scotland did they come?', 'who came?', 'when?', 'in what numbers?', and 'where did they settle?'.</b></p> <p>While previous studies have suggested partial answers to some of these questions, the present research offers a more full and detailed profile of New Zealand's Scots migrants than has previously been available. Critically, it takes the earlier findings further. Though the investigation has been based primarily upon statistical analysis ofa genealogically-sourced database of 6,612 migrants, quantitative analysis has beensupplemented by qualitative case studies. Comparison with a second set of data derived from death certificates has enabled a testing of the validity of genealogical data as a source for migration studies. In addition to the five central questions around which the thesis is structured, the study also addresses issues of internal migration within Scotland, emigration to otherdestinations prior to arrival in New Zealand, individual and generational occupationalmobility, chain and cluster migration among Shetland migrants, and return migration.</p>

SSR-Based Analysis of Genetic Diversity and Structure of Sweet Cherry (Prunus avium L.) from 19 Countries in Europe

Sweet cherry (Prunus avium L.) is a temperate fruit species whose production might be highly impacted by climate change in the near future. Diversity of plant material could be an option to mitigate these climate risks by enabling producers to have new cultivars well adapted to new environmental conditions. In this study, subsets of sweet cherry collections of 19 European countries were genotyped using 14 SSR. The objectives of this study were (i) to assess genetic diversity parameters, (ii) to estimate the levels of population structure, and (iii) to identify germplasm redundancies. A total of 314 accessions, including landraces, early selections, and modern cultivars, were monitored, and 220 unique SSR genotypes were identified. All 14 loci were confirmed to be polymorphic, and a total of 137 alleles were detected with a mean of 9.8 alleles per locus. The average number of alleles (N = 9.8), PIC value (0.658), observed heterozygosity (Ho = 0.71), and expected heterozygosity (He = 0.70) were higher in this study compared to values reported so far. Four ancestral populations were detected using STRUCTURE software and confirmed by Principal Coordinate Analysis (PCoA), and two of them (K1 and K4) could be attributed to the geographical origin of the accessions. A N-J tree grouped the 220 sweet cherry accessions within three main clusters and six subgroups. Accessions belonging to the four STRUCTURE populations roughly clustered together. Clustering confirmed known genealogical data for several accessions. The large genetic diversity of the collection was demonstrated, in particular within the landrace pool, justifying the efforts made over decades for their conservation. New sources of diversity will allow producers to face challenges, such as climate change and the need to develop more sustainable production systems.

Advanced Paternal Age With Risk of Lifespan in Male Offspring Using Chinese Genealogical Data

Background Advanced paternal age has been associated with a variety of adverse reproductive outcomes. However, the effects of paternal age on offspring lifespan are still controversial. Result Here, we studied the correlation between parental reproductive age and offspring lifespan using a Chinese specific genealogy data. We chose a “Ding” genealogy data across 130 years during the Qing Dynasty (1726-1855). The present study showed that fathers aged more than 35 years were more likely to have male offspring with lower lifetime compared with fathers aged 20-35 years. The significant negative correlation between paternal age and male offspring lifespan existed after adjusted for maternal age. We proposed a new evidence that advanced paternal age is a risk for male offspring survival.

Research of Collection Arrangement of Gelao 's Genealogy

The Gelao nationality is one of the oldest minorities in southern China recognized by the academic circles. However, up to now, the genealogical research of Gelao nationality is still very weak. The reason is that the genealogical data of the Gelao nationality is extremely scarce at present, which seriously affects the development of relevant research. Therefore, it is urgent to collect and sort out the genealogy of the Gelao nationality in a comprehensive and systematic manner. The genealogy research of Gelao nationality will use the following methods: the combination of document acquisition method and field survey method; digital collection method; document cataloging method and summary method; content analysis and value analysis; intra-ethnic and inter-ethnic comparative analysis. The Gelao genealogy research has several academic values: it provides solid data support for related research in philology, ethnology, history, and other disciplines; it helps to expand the research scope and field of genealogy; it helps to promote the in-depth development of Gelao studies. The practical significance of the study of Gelao genealogy: it helps to promote family construction in Gelao areas; it helps to enhance the cultural confidence of Gelao people and maintain the harmony and stability of Gelao areas.

Development of the Genealogical FamilySearch Database and Expanding Its Use to Map and Measure Multiple Generations of American Migration

Genealogical research is full of opportunities for connecting generations. Millions of people pursue that purpose as they put together family trees that span hundreds of years. These data are valuable in linking people to the people of their past and in developing personal identities, and they can also be used in other ways. The purposes of this paper are to first give a short history of the development and practice of family history and genealogical research in the Church of Jesus Christ of Latter-day Saints, which has developed the FamilySearch website, and second, to show how genealogical data can illustrate forward generation migration flows across the United States by analyzing resulting patterns and statistics. For example, descendants of people born in several large cities exhibited distinct geographies of migration away from the cities of their forebears.