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PLoS Genetics Oct 2023Variation in pigment patterns within and among vertebrate species reflects underlying changes in cell migration and function that can impact health, reproductive...
Variation in pigment patterns within and among vertebrate species reflects underlying changes in cell migration and function that can impact health, reproductive success, and survival. The domestic pigeon (Columba livia) is an exceptional model for understanding the genetic changes that give rise to diverse pigment patterns, as selective breeding has given rise to hundreds of breeds with extensive variation in plumage color and pattern. Here, we map the genetic architecture of a suite of pigmentation phenotypes known as piebalding. Piebalding is characterized by patches of pigmented and non-pigmented feathers, and these plumage patterns are often breed-specific and stable across generations. Using a combination of quantitative trait locus mapping in F2 laboratory crosses and genome-wide association analysis, we identify a locus associated with piebalding across many pigeon breeds. This shared locus harbors a candidate gene, EDNRB2, that is a known regulator of pigment cell migration, proliferation, and survival. We discover multiple distinct haplotypes at the EDNRB2 locus in piebald pigeons, which include a mix of protein-coding, noncoding, and structural variants that are associated with depigmentation in specific plumage regions. These results identify a role for EDNRB2 in pigment patterning in the domestic pigeon, and highlight how repeated selection at a single locus can generate a diverse array of stable and heritable pigment patterns.
Topics: Animals; Columbidae; Genome-Wide Association Study; Feathers; Phenotype; Pigmentation
PubMed: 37862332
DOI: 10.1371/journal.pgen.1010880 -
Revista de Neurologia Sep 2023
Topics: Humans; Cerebellar Ataxia; Lymphohistiocytosis, Hemophagocytic; Piebaldism; Primary Immunodeficiency Diseases; Acute Disease
PubMed: 37668236
DOI: 10.33588/rn.7706.2023195 -
Clinical, Cosmetic and Investigational... 2024Piebaldism is a rare genetic disorder caused by mutations and clinically characterized by fixed depigmented patches throughout the body. Herein, a case of piebaldism in...
Piebaldism is a rare genetic disorder caused by mutations and clinically characterized by fixed depigmented patches throughout the body. Herein, a case of piebaldism in which the depigmented patches regressed as the patient grew older, along with the development of multiple café-au-lait macules, is described. The likely pathogenic, heterozygous c.1991-2A>G variant was detected as the potential cause of this unusual piebaldism phenotype. This case provides new knowledge on genotype-phenotype correlation of mutations for piebaldism etiology and presentation.
PubMed: 38524391
DOI: 10.2147/CCID.S449691 -
BioRxiv : the Preprint Server For... Jan 2024Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, , encodes...
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, , encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. There is extensive genetic variation in humans with missense, splice-site, and C-terminal frameshift variants in . In mice, is not an essential gene, as there exists a paralogous gene, , that substantially rescues knockout mice from embryonic lethality, whereas double knockouts ( Naa12 are embryonic lethal. However, the phenotypic variability in the mice is nonetheless quite extensive, including piebaldism, skeletal defects, small size, hydrocephaly, hydronephrosis, and neonatal lethality. Here we replicate these phenotypes with new genetic alleles in mice, but we demonstrate their modulation by genetic background and environmental effects. We cannot replicate a prior report of "maternal effect lethality" for heterozygous female mice, but we do observe a small amount of embryonic lethality in the male mice on the inbred genetic background in this different animal facility.
PubMed: 37163119
DOI: 10.1101/2023.04.27.538618 -
Pediatric Hematology and Oncology May 2024
Review
Successful haploidentical bone marrow transplantation in Griscelli syndrome type 2 with non-busulfan-based regimen and post-transplantation cyclophosphamide: a case report and review of the literature.
Topics: Humans; Bone Marrow Transplantation; Cyclophosphamide; Primary Immunodeficiency Diseases; Lymphohistiocytosis, Hemophagocytic; Transplantation Conditioning; Graft vs Host Disease; Hematopoietic Stem Cell Transplantation; Piebaldism
PubMed: 37906298
DOI: 10.1080/08880018.2023.2273880 -
Journal of Fish Biology Aug 2023We report the first case of partial albinism in the Critically Endangered angelshark, Squatina squatina. The encounter with this specimen took place while SCUBA diving...
We report the first case of partial albinism in the Critically Endangered angelshark, Squatina squatina. The encounter with this specimen took place while SCUBA diving on the beach of Tufia, located on the east coast of the island of Gran Canaria on 2 April 2021. This is also the first confirmed finding of an albino elasmobranch specimen in the Canary Island archipelago.
Topics: Animals; Piebaldism; Albinism; Sharks; Spain
PubMed: 37148473
DOI: 10.1111/jfb.15429