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Despite much attention on the history of goat evolution, information on origin, demographic history, and expansion route remains controversial. To address these questions, we collected 4,189 published goat DNA sequences including 1,228 sequences from 57 breeds in China and 2,961 sequences including 193 goat breeds from 71 other countries and carried out an integrated analysis. We found goat breeds from South China had the highest genetic diversity of lineage B, and subclades B2 only were found in Southwest China, suggesting that lineage B (particularly, subclade B2) probably originated from Southwest China and its surrounding areas. In addition, in this study, we found that lineage A from South China also presented higher genetic diversity and earlier expansion time (10, 606 years ago), even earlier than breeds from the Middle East. Hence, we speculated that South China and surrounding areas were the origin of lineage B and also the transportation hub for lineage A spreading to North China and Southwest Asia. Furthermore, according to the analysis of correlation between genetic differentiation value λ1 and λ2 and geographical distance, we further confirmed two phases of migration in goat breeds of North China. These results will contribute to a better understanding of the origin and migration history of domestic goat. [ABSTRACT FROM AUTHOR]

• The allopolyploid Isoetes sinensis is only distributed in the plain, but has a plateau parent Isoetes yunguiensis. • The strong ultraviolet radiation (UV) might be major stress for I. sinensis in the plateau adaptation. • Crassulacean acid metabolism (CAM) intensity of I. sinensis might positively associate with the altitude. Relatively high frequencies of polyploidy are generally found in high-altitude regions. However, more diploid than polyploid species of Isoetes are distributed in plateau environments in China. The low-altitude species Isoetes sinensis originates from the allopolyploidization between a plateau parent and another low altitude species. To study potential ecological adaptation to plateau environments in the allopolyploid I. sinensis , we transplanted individuals of I. sinensis to different altitudes. RNA sequencing was performed to elucidate the molecular response of this species' ecological adaptation to plateaus. More unique differentially expressed genes (DEGs) were detected in individuals transplanted to the Qinghai–Tibet Plateau (QTP) than elsewhere, such as genes for ribosomal proteins (RPs) and succinate dehydrogenase (SDH), which helped them adapt to higher altitudes under both terrestrial and submerged conditions. In both terrestrial and submerged conditions, the expression of a large number of genes changed to help plants adapt to exposure to the high levels of ultraviolet (UV) radiation on plateaus, such as the genes associated with the accumulation of flavonoids, decreasing chlorophyll content, and reducing light harvesting activity. The expression of vacuolar-type H+-transporting ATPase (V-ATPase) and phosphoenolpyruvate carboxylase (PEPC) increased with altitude, revealing that the intensity of the crassulacean acid metabolism (CAM) of I. sinensis might be positively associated with altitude. In general, our results reveal that although I. sinensis only lives at low altitudes, it can still adapt to plateau stress by regulating the expression of certain key genes. The potential ecological adaptation to plateau environments in the allopolyploid I. sinensis may have been inherited from the plateau parent. [ABSTRACT FROM AUTHOR]

Background: Enterocytozoon bieneusi, Encephalitozoon spp., Cryptosporidium spp., and Giardia duodenalis (G. intestinalis) are enteric pathogens that cause diarrhea in pigs. This study aimed to determine the prevalence of these enteric parasites and their coinfection with E. bieneusi in diarrheic pigs in Southwest China (Chongqing and Sichuan) using nested polymerase chain reaction (nPCR) based methods., Results: A total of 514 fecal samples were collected from diarrheic pigs from 14 pig farms in Chongqing (five farms) and Sichuan (nine farms) Provinces. The prevalence of Encephalitozoon spp., Cryptosporidium spp. and G. duodenalis was 16.14% (83/514), 0% (0/514), and 8.95% (46/514), respectively. Nested PCR revealed 305 mono-infections of E. bieneusi, six of E. cuniculi, two of E. hellem, and nine of G. duodenalis and 106 concurrent infections of E. bieneusi with the other enteric pathogens. No infections of E. intestinalis and Cryptosporidium species were detected. The highest coinfection was detected between E. bieneusi and E. cuniculi (10.5%, 54/514), followed by E. bieneusi and G. duodenalis (5.8%, 30/514) and E. bieneusi and E. hellem (2.9%, 15/514). E. bieneusi was the most frequently detected enteric pathogen, followed by E. cuniculi, G. duodenalis and E. hellem. There was a significant age-related difference in the prevalence of E. cuniculi in fattening pigs (χ 2  = 15.266, df = 3, P = 0.002) and G. duodenalis in suckling pigs (χ 2  = 11.92, df = 3, P = 0.008) compared with the other age groups. Sequence analysis of the ITS region of Encephalitozoon species showed two genotypes (II and III) for E. cuniculi and one (TURK1B) for E. hellem. Only G. duodenalis assemblage A was identified in all nested PCR-positive samples. E. bieneusi was found more often than other enteric pathogens., Conclusions: This study showed that E. bieneusi, Encephalitozoon spp. [E. cuniculi and E. hellem] and G. duodenalis were common enteric parasites in diarrheic pigs in Chongqing and Sichuan Provinces. In case of both mono-infection and coinfection, E. bieneusi was the most common enteric pathogen in diarrheic pigs. Thus, it may be a significant cause of diarrhea in pigs. Precautions should be taken to prevent the spread of these enteric parasites., (© 2023. The Author(s).)

Objective: To identify the causative variants in 13 Chinese pedigrees affected with oculocutaneous albinism (OCA) so as to provide genetic counseling and prenatal diagnosis to them., Methods: Thirteen unrelated pedigrees with clinically diagnosed OCA were collected and classified based on the manifestation of skin and eyes. With informed consent obtained from the participants, peripheral blood samples were collected from the probands and their family members for the extraction of genomic DNA. Candidate variants were screened by targeted capture and next generation sequencing, and the results were validated by Sanger sequencing. Prenatal diagnosis was provided to the families upon their subsequent pregnancies., Results: Causative variants were detected in all probands, including 10 with compound heterozygotes or homozygotes for TYR gene variants and 3 with compound heterozygotes for OCA2 gene variants. Among these, two variants [TYR: c.650G>C (p.Arg217Pro) and OCA2: c.516-2A>T] were unreported previously. The pathogenicity of the novel TYR: c.650G>C (p.Arg217Pro) variant was verified through bioinformatic analysis and prediction of three dimensional structure of the protein. Prenatal diagnosis was provided to 6 fetuses with a high risk for OCA. Four fetuses were found to be carriers, one did not carry the variants of the proband, and one was affected with OCA., Conclusion: Identification of the pathogenic variants in the 13 probands, including 2 novel ones, has expanded the mutational spectrum of OCA and enabled genetic counseling and prenatal diagnosis for the families.