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Indian Dermatology Online Journal 2024[This retracts the article on p. 144 in vol. 3, PMID: 23130293.].
[This retracts the article on p. 144 in vol. 3, PMID: 23130293.].
PubMed: 38845665
DOI: 10.4103/idoj.idoj_305_24 -
Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.PloS One 2024Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10,...
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10, 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 NAA10. In mice, Naa10 is not an essential gene, as there exists a paralogous gene, Naa12, that substantially rescues Naa10 knockout mice from embryonic lethality, whereas double knockouts (Naa10-/Y 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 Naa10-/X female mice, but we do observe a small amount of embryonic lethality in the Naa10-/y male mice on the inbred genetic background in this different animal facility.
Topics: Animals; N-Terminal Acetyltransferase A; N-Terminal Acetyltransferase E; Mice; Female; Mice, Knockout; Male; Phenotype; Genetic Background; Maternal Inheritance; Mice, Inbred C57BL
PubMed: 38713657
DOI: 10.1371/journal.pone.0301328 -
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 -
Frontiers in Cell and Developmental... 2024Reptilian species, particularly snakes and lizards, are emerging models of animal coloration. Here, I focus on the role of the TFEC transcription factor in snake and...
Reptilian species, particularly snakes and lizards, are emerging models of animal coloration. Here, I focus on the role of the TFEC transcription factor in snake and lizard coloration based on a study on wild-type and piebald ball pythons. Genomic mapping previously identified a TFEC mutation linked to the piebald ball python phenotype. The association of TFEC with skin coloration was further supported by gene-editing experiments in the brown anole lizard. However, novel histological analyses presented here reveal discrepancies between the ball python and the anole TFEC mutants phenotype, cautioning against broad generalizations. Indeed, both wild-type and piebald ball pythons completely lack iridophores, whereas the TFEC anole lizard mutants lose their iridophores compared to the wild-type anole. Based on these findings, I discuss the potential role of the MiT/TFE family in skin pigmentation across vertebrate lineages and advocate the need for developmental analyses and additional gene-editing experiments to explore the reptilian coloration diversity.
PubMed: 38385026
DOI: 10.3389/fcell.2024.1358828 -
Skin Research and Technology : Official... Jan 2024To compare the efficacy and safety of autologous cultured melanocytes transplantation (CMT) and non-cultured epidermal cell suspension transplantation (NCES) in the...
Comparative outcomes of autologous cultured melanocytes transplantation and non-cultured epidermal cell suspension transplantation in piebaldism patients: A retrospective study.
PURPOSE
To compare the efficacy and safety of autologous cultured melanocytes transplantation (CMT) and non-cultured epidermal cell suspension transplantation (NCES) in the treatment of piebaldism.
PATIENTS AND METHODS
A retrospective study was conducted on 30 anatomically based lesions from nine piebaldism patients who underwent either CMT (n = 7) or NCES (n = 23) between 2018 and 2020. The extent of repigmentation and colour matching was evaluated in all recipient sites using a digital imaging analysis system. In addition, adverse effects have also been assessed by follow-up results.
RESULTS
More than 75% repigmentation was achieved in 100% (7/7) and 60.9% (14/23) of the 30 lesions with the CMT and NCES, respectively. There were significant differences between the two methods in terms of repigmentation. The majority of patients had colour mismatches, and there was no discernible difference between the two surgical techniques. Adverse reactions rarely occurred.
CONCLUSION
The present study suggested that autologous CMT may provide better repigmentation in piebaldism patients than NCES with no significant side effects.
Topics: Humans; Retrospective Studies; Piebaldism; Treatment Outcome; Vitiligo; Melanocytes
PubMed: 38225879
DOI: 10.1111/srt.13580 -
Neurology India 2023
Topics: Humans; Primary Immunodeficiency Diseases; Piebaldism; Lymphohistiocytosis, Hemophagocytic; Nervous System Diseases
PubMed: 37929462
DOI: 10.4103/0028-3886.388096 -
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 -
Animals : An Open Access Journal From... Sep 2023Belted pig breeds have unique, distinguishing phenotypic characteristics. This review summarises the current knowledge on pig breeds displaying a belted coat pattern.... (Review)
Review
Belted pig breeds have unique, distinguishing phenotypic characteristics. This review summarises the current knowledge on pig breeds displaying a belted coat pattern. Belts of different widths and positions around the animal's trunk characterise specific pig breeds from all around the world. All the breeds included in the present paper have been searched through the FAO domestic animal diversity information system (DAD-IS), Every country was checked to identify all breeds described as having black or red piebald coat pattern variations. Advances in genomic technologies have made it possible to identify the specific genes and genetic markers associated with the belted phenotype and explore the genetic relationships between different local breeds. Thus, the origin, history, and production traits of these breeds, together with all the genomic information related to the mechanism of skin pigmentation, are discussed. By increasing our understanding of these breeds, we can appreciate the richness of our biological and cultural heritage and work to preserve the biodiversity of the world's animals.
PubMed: 37835678
DOI: 10.3390/ani13193072 -
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 -
BioRxiv : the Preprint Server For... Jul 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 () 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 F 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, that is a known regulator of pigment cell migration, proliferation, and survival. We discover multiple distinct haplotypes at the 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 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.
PubMed: 37546953
DOI: 10.1101/2023.07.26.550625