Uniparental Lineages from the Oldest Indigenous Population of Ecuador: The Tsachilas

Together with Cayapas, the Tsachilas constitute the oldest population in the country of Ecuador and, according to some historians, they are the last descendants of the ancient Yumbos. Several anthropological issues underlie the interest towards this peculiar population: the uncertainty of their origin, their belonging to the Barbacoan linguistic family, which is still at the center of an intense linguistic debate, and the relations of their Yumbo ancestors with the Inca invaders who occupied their ancient territory. Our contribution to the knowledge of their complex past was the reconstruction of their genetic maternal and paternal inheritance through the sequencing of 70 entire mitochondrial genomes and the characterization of the non-recombinant region of the Y chromosome in 26 males. For both markers, we built comprehensive datasets of various populations from the surrounding geographical area, northwestern South America, NW, with a known linguistic affiliation, and we could then compare our sample against the overall variability to infer relationships with other Barbacoan people and with other NW natives. We found contrasting patterns of genetic diversity for the two markers, but generally, our results indicated a possible common origin between the Tsachilas, the Chachi, and other Ecuadorian and Colombian Barbacoans and are suggestive of an interesting ancient linkage to the Inca invaders in Yumbo country.

THE INFLUENCE OF GENOTYPIC FACTORS ON LONGEVITY AND LIFETIME PRODUCTION OF DAIRY COWS

The influence of genotypic factors (breed, Holstein share heredity, line or related group, sire) on the longevity and lifetime production of dairy cows has been investigated. The study was carried out in a retrospective statistical experiment on the commercial dairy farm “Terezyne”, which located in Kyiv region. The formed matrix of observations in the sta format generally contained information about 5703 cows for 458 variables. Holstein cows were characterized by higher longevity (1489 ± 27.8 days) and higher lifetime milk production (21940 ± 500.9 kg), the lowest longevity and lifetime milk production had cows of Ukrainian Red-and-White dairy breed. Holstein cows compared to animals of Ukrainian Red-and-White dairy breed had in average more lactations (+0.57 ± 0.187) and higher number of total calves (+0.59 ± 0.244). They had an advantage in lifespan by 218 ± 80.1 days, productive lifespan – by 326 ± 82.0 days, total lactation length – by 282 ± 62.2 days. During the lifetime, they produced 4119 ± 1398.4 kg more milk and 549.3 ± 99.62 kg more milk fat and milk protein. Lifetime daily milk yield of Holstein cows was on average 2.6 ± 0.37 kg higher, lifetime daily milk fat and milk protein – 208 ± 26.7 g more compared to animals of the Ukrainian Red-and-White dairy breed. Cows of Ukrainian Black-and-White dairy breed in most traits were intermediate between Holstein and Ukrainian Red-and-White dairy breed. While increasing Holstein share heredity the longevity and lifetime production of cows tended for curvilinear growing. Lifetime of Holstein cows (100%) in the herd was 0.16 ± 0.405 lactations and 325 ± 170.7 days (P < 0.1) longer compared to animals with Holstein share heredity less than 75%. Their lifetime milk production was 8969 ± 2351.6 kg (P < 0.001) higher, lifetime milk fat and milk protein production by 709.9 ± 164.73 kg (P < 0.001) higher, lifetime daily yield by 3.0 ± 0.62 kg (P < 0.001) and 250 ± 43.5 g (P < 0.001), respectively, higher. The cows of Starbuck 352790, Valiant 1650414 and Elevation 1491007 lines and daughter of V. Astronomer 2160438 and H. R. Artist 6284191 sires showed the best longevity and lifetime production. The advantage of cows of the related group of Starbuck 352790 in comparison to animals of other lines in total number of lactations was 0.28–1.29, number of total calves – 0.16–1.20, lifespan – 90–508 days, productive lifespan – 116–603 days, total lactation length – 98–500 days, lifetime milk production – 1402–12161 kg, lifetime milk fat and milk protein production – 115–892 kg. Daughters of bull V. Astronomer 2160438 characterized by 0.96–2.72 more total number of lactations than daughters of other bulls; they had 0.80–2.33 higher average number of total calves. In terms of lifespan, productive lifespan and total lactation length, daughters of this bull were predominated the daughters of other bulls by 392–1037, 297–1143 and 278–971 days, respectively. One-way analysis of variance showed that the greatest influence on longevity and lifetime production of dairy cows had a paternal inheritance, the lowest – breed, it means there is a tendency of increasing the influence of genotypic factors on the researched traits while reducing the level of selection group in the system hierarchy. The strength of breed influence (higher level of intraspecific selection system hierarchy) on the traits of longevity and lifetime production of cows ranged from 1.1 to 12.5%, Holstein share heredity – 3.9 to 19.5%, line or related group – 4.0–19.8% and paternal inheritance – 25.0–47.6%. Greater degree of influence of paternal inheritance is explained both by the lowest (basic) level of intrabreed system hierarchy (the closest level of intragroup kinship) and (partially) by a much higher number of gradations of the organized factor.

Paternal Inheritance of Bisphenol A Cardiotoxic Effects: The Implications of Sperm Epigenome

Parental exposure to bisphenol A (BPA) has been linked to a greater incidence of congenital diseases. We have demonstrated that BPA induces in zebrafish males an increase in the acetylation of sperm histones that is transmitted to the blastomeres of the unexposed progeny. This work is aimed to determine whether histone hyperacetylation promoted by paternal exposure to BPA is the molecular mechanism underlying the cardiogenesis impairment in the descendants. Zebrafish males were exposed to 100 and 2000 µg/L BPA during early spermatogenesis and mated with non-exposed females. We analyzed in the progeny the expression of genes involved in cardiogenesis and the epigenetic profile. Once the histone hyperacetylation was confirmed, treatment with epigallocatechin gallate (EGCG), an inhibitor of histone acetyltransferases, was assayed on F1 embryos. Embryos from males exposed to 2000 µg/L BPA overexpressed the transcription factor hand2 and the receptor esr2b, showing their own promoters—as well as that of kat6a—an enrichment in H3K9ac. In embryos treated with EGCG, both gene expression and histone acetylation (global and specific) returned to basal levels, and the phenotype was recovered. As shown by the results, the histone hyperacetylated landscape promoted by BPA in the sperm alters the chromatin structure of the progeny, leading to the overexpression of the histone acetyltransferase and genes involved in cardiogenesis.

Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains

Background Whereas duplications in 11p15.5 covering both imprinting centers (ICs) and their subordinated genes account for up to 1% of Beckwith–Wiedemann and Silver–Russell syndrome patients (BWS, SRS), the deletions in 11p15.5 reported so far only affect one of the ICs. In these cases, not only the size and gene content had an impact on the phenotype, but also the sex of the contributing parent influences the clinical signs of the deletion carrier. Results We here report on the first case with a heterozygous deletion within the maternal allele affecting genes which are regulated by both ICs in 11p15.5 in a BWS patient, and describe the molecular and clinical consequences in case of its maternal or paternal inheritance. Conclusions The identification of a unique deletion affecting both 11p15.5 imprinting domains in a BWS patient illustrates the complexity of the regulation mechanisms in these key imprinting regions.

Occasional paternal inheritance of the germline-restricted chromosome in songbirds

All songbirds have one special accessory chromosome1–4, the so-called germline-restricted chromosome (GRC)4–7, which is only present in germline cells and absent from all somatic tissues. Earlier work on the zebra finch (Taeniopygia guttata castanotis) showed that the GRC is inherited only through the female line4,6,8,9 – like mitochondrial DNA7,9–12 – and is eliminated from the sperm during spermatogenesis5,7,9–11. Here we show that the GRC can also be paternally inherited. Confocal microscopy using GRC-specific FISH probes indicated that a considerable fraction of sperm heads (1-19%) in zebra finch ejaculates still contained the GRC. In line with these cytogenetic data, sequencing of ejaculates revealed that individual males from two families differed strongly and consistently in the number of GRCs in their ejaculates. Examining a captive-bred population of hybrids of the two zebra finch subspecies (T. g. guttata and T. g. castanotis) revealed that the descendants inherited their mitochondria from a castanotis mother but their GRC from a guttata father. Moreover, GRC haplotypes across nine different castanotis matrilines showed at best a weak tendency to be co-inherited with mtDNA haplotypes. Within castanotis, the GRC showed little variability, while the mtDNA of matrilines was highly divergent. This suggests that a single GRC haplotype has recently spread across the entire castanotis population, crossing the matriline boundaries via paternal spillover. Our findings raise the possibility that certain GRC haplotypes could selfishly spread through the population, via additional paternal transmission, thereby outcompeting other GRC haplotypes that were limited to strict maternal inheritance, even if this was partly detrimental to organismal fitness.