In it for the long run: perspectives on exploiting long-read sequencing in livestock for population scale studies of structural variants

TV Nguyen, CJ Vander Jagt, J Wang… - Genetics Selection …, 2023 - Springer
Studies have demonstrated that structural variants (SV) play a substantial role in the
evolution of species and have an impact on Mendelian traits in the genome. However, unlike …

The complex and diverse genetic architecture of the absence of horns (polledness) in domestic ruminants, including goats and sheep

R Simon, C Drögemüller, G Lühken - Genes, 2022 - mdpi.com
Horns are the most obvious common feature of Bovidae. The naturally occurring absence of
horns in these species, also known as polledness, is of surprisingly heterogeneous nature …

Genome-wide association study reveals 14 new SNPs and confirms two structural variants highly associated with the horned/polled phenotype in goats

J Guo, R Jiang, A Mao, GE Liu, S Zhan, L Li, T Zhong… - BMC genomics, 2021 - Springer
Background There is a long-term interest in investigating the genetic basis of the
horned/polled phenotype in domestic goats. Here, we report a genome-wide association …

Genome-wide association study provided insights into the polled phenotype and polled intersex syndrome (PIS) in goats

F Zhang, Q Liu, P Gong, Y Wang, C Shi, L Zhu, J Zhao… - BMC genomics, 2024 - Springer
Background Breeding polled goats is a welfare-friendly approach for horn removal in
comparison to invasive methods. To gain a comprehensive understanding of the genetic …

balancing selection for deleterious alleles in livestock

MFL Derks, M Steensma - Frontiers in Genetics, 2021 - frontiersin.org
Harmful alleles can be under balancing selection due to an interplay of artificial selection for
the variant in heterozygotes and purifying selection against the variant in homozygotes …

Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs

J Wu, S Tan, Z Feng, H Zhao, C Yu, Y Yang… - Biology of Sex …, 2024 - Springer
Background Differences of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. In more than 50% of human DSD …

XX/XY chimerism in internal genitalia of a virilized heifer

I Szczerbal, J Nowacka-Woszuk, M Stachowiak… - Animals, 2022 - mdpi.com
Simple Summary Freemartinism is the most common type of disorder of sex development
(DSD) in heifers; it is caused by the formation of placental anastomoses between …

Clinical and gonadal transcriptome analysis of 38, XX disorder of sex development pigs

J Wu, S Tan, Y Zhou, H Zhao, H Yu… - Biology of …, 2024 - academic.oup.com
Pigs serve as a robust animal model for the study of human diseases, notably in the context
of disorders of sex development (DSD). This study aims to investigate the phenotypic …

Identification of a goat intersexuality-associated novel variant through genome-wide resequencing and Hi-C

DK Zhou, ZQ Zheng, BG Yang, XL Li, LH Li… - Frontiers in …, 2021 - frontiersin.org
Background: Polled intersex syndrome (PIS) leads to reproductive disorders in goats and
exerts a heavy influence on goat breeding. Since 2001, the core variant of an 11.7 kb …

[HTML][HTML] Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs

J Nowacka-Woszuk, M Stachowiak, I Szczerbal… - Genomics, 2022 - Elsevier
Disorders of sex development (DSDs) are congenital malformations defined as
discrepancies between sex chromosomes and phenotypical sex. Testicular or ovotesticular …