The PER3rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria

Chen, Hongyu; Yang, Pingping; Yang, Dexin; Wang, Dongsheng; Lu, Mao; Li, Yadong; Zhong, Zhiqiang; Zhang, Jing; Zeng, Zhen; Li, Zhi; Zeng, Xiaohua; Xu, Jian; Xing, Qinghe; Zhou, Ding’an

doi:10.1007/s00109-023-02288-6

Cited by 3 publications

(16 citation statements)

References 42 publications

(55 reference statements)

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“…16 were found to be transmitted in an autosomal dominant manner. 21 The proband in this DUH family had normal skin at birth. The lesions which were most obvious on her face, neck, trunk and dorsa of her hands and buttocks are presented in a symmetrical pattern.…”

Section: Mutations Of the Pathogenic Gene Of Duh3mentioning

confidence: 88%

“…Immunofluorescence analyses indicated that increased absolute numbers of Ki67-positive or Mitf-positive cells or enhanced ratio of proliferative melanocytes in the proliferative cells in the hyperpigmented macules were induced by PER3 rs772027021 SNP and/or SASH1 T525R variant, respectively. 21 Oppositely, increased absolute numbers of Ki67-positive or Mitfpositive cells or enhanced ratio of proliferative melanocytes in the hypopigmented macules were not induced. Additionally, mosaiclike expression and distribution of PER3 was detected in basal and superbasal layers of hyperpigmented macules from the proband and her aunt (Figure S1A,B).…”

Section: Upregulation Of Melanogenesis Associated Partners Was Induce...mentioning

confidence: 96%

“…In adulthood, irregularly shaped, asymptomatic hyper and hypopigmented macules were present over her face, neck, abdomen and back, dorsal aspects of the hands and arms, thighs, calves and hips (Figure 2A-C). 21 Other affected individuals all showed sporadic or disseminated hyperpigmented and/or hypopigmented macules on the limbs, trunk, back and auricle. The hypopigmented and hyperpigmented lesions of the proband's father were concentrated on his trunk, shoulder and back and his hyperpigmented lesions were diffusely distributed (Figure 2D,E).…”

Section: Mutations Of the Pathogenic Gene Of Duh3mentioning

confidence: 99%

“…We subjected the exomes of five affected and five unaffected family members to whole-exome sequencing in the mild DUH family. 21 The SASH1 variants including the c.1761C>G (p.Ser587Arg) variant, 9 the c.1553A>C (p.Q518P) one, 10 and the c.1556G->A(p. S519N) 18 one of SASH1 which had been reported previously to associate with genodermatosis or DUH were not indicated in the Exome sequencing results. Sanger sequencing analysis indicated that a SASH1 variant (c. 1574C>G (p.T525R)) was only identified in the proband but not in affected and unaffected individuals in the DUH family.…”

Section: Mutations Of the Pathogenic Gene Of Duh4mentioning

confidence: 99%

“…29 Although an increase in phosphorylated ERK1/2 and CREB levels is caused by mutated SASH1 alleles, 26 enhanced phosphorylation level of CREB, and decreased phosphorylation levels of ERK1/2 was induced the SNP PER3 rs770720021 (Figure 4B), which indicated a novel PER3-CREB phosphorylation cascade could mediate melanogenesis. 21 Up to now, at least the canonical CREB/ERK cascade which mediate melanogenesis is revealed to be regulated by two causative genes that is, SASH1 and PER3. However, S587R-SASH1 exhibited reduced SASH1 expression and the downregulation of S587R-SASH1 may be caused by TGFβ treatment.…”

Section: Novel Melanogenesis Associated Pathways Were Activated By Th...mentioning

confidence: 99%

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Retyping and molecular pathology diagnosis of dyschromatosis universalis hereditaria

Zhou

Yang

Chen

2023

Experimental Dermatology

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Dyschromatosis universalis hereditaria (DUH) is characterized by diffuse symmetrically distributed hypopigmented macules mixed with hyperpigmentation. DUH is divided into three types by Online Mendelian inheritance in man (OMIM) that is, DUH1 (OMIM 127500), DUH2 (OMIM 612715) and DUH3 (OMIM 615402) according to the different linkage regions. Although each condition possesses corresponding phenotypic characteristics and the prognosis for each is somewhat different, these disorders are highly overlapped and difficult to differentiate in the clinical setting. Our latest study reveals a novel DUH subtype that presents a mild phenotype of pigmentation anomalies and is named PER3rs772027021 SNP related DUH or DUH4 by us, which make the DUH subtype can be further retyped. Heterozygous distribution or mosaic‐like distribution of melanin is a newly discovered pathological features that is uniquely demonstrated in the affected layers of DUH1 and DUH4 patients. In this review, DUH is further divided into four subtypes according the causative genes and their mutational sites, and the mutation regions described in the previous reports. To make an accurate diagnosis, we suggest that Sanger sequencing or the target region sequencing (TRS) to the candidate causative genes related melanogenesis may be the most effective and convenient method of clinical diagnosis or/and prenatal diagnosis for DUH and DUH‐like patients. More importantly, heterozygous distribution or mosaic‐like distribution of melanin can be utilized for differential diagnosis of DUH. We also investigate the underlying molecular mechanism to form mosaic‐like melanin in the affected layers of hyper‐ and/or hypo‐pigmented macules from DUH1 and DUH4 patients. This review provides a molecular and pathological delineation of four types of DUH and aims to establish a concise diagnostic strategy to allow clinical dermatologists to make an accurate diagnosis.

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Section: Mutations Of the Pathogenic Gene Of Duh3mentioning

confidence: 88%

Section: Upregulation Of Melanogenesis Associated Partners Was Induce...mentioning

confidence: 96%

Section: Mutations Of the Pathogenic Gene Of Duh3mentioning

confidence: 99%

Section: Mutations Of the Pathogenic Gene Of Duh4mentioning

confidence: 99%

Section: Novel Melanogenesis Associated Pathways Were Activated By Th...mentioning

confidence: 99%

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Retyping and molecular pathology diagnosis of dyschromatosis universalis hereditaria

Zhou

Yang

Chen

2023

Experimental Dermatology

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Dyschromatosis universalis hereditaria

Murthy,

Palaniappan,

Karthikeyan

et al. 2023

Int J Dermatology

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Reticulate pigmentary dyschromatoses primarily include dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH) (Reticulate acropigmentation of Dohi), and unilateral dermatomal pigmentary dermatosis, which differ in their patterns of distribution. The disease was initially described by Ichikawa and Hiraga in Germany in 1933. The prevalence of DUH is 0.3 per 100,000 with a female preponderance. The skin lesions usually appear in infancy or early childhood and cease to progress beyond adolescence. The subtypes DUH 1 and DUH 3 are found to have autosomal dominant inheritance, which is the most common inheritance pattern, while DUH 2 has an autosomal recessive pattern. The most common gene involved in DUH is ABCB6, while the other genes include SASH 1, PER 3, and KITLG (DUH type 2). DUH is characterized by multiple irregular hyperpigmented macules interspersed with hypopigmented macules in a mottled pattern over the trunk and extremities. The face is involved in 50% of individuals. Rarely, it can also involve hairs, nails, mucous membranes, palms, and soles. Other varied presentations include localized forms, localization of lesions to sun‐exposed areas, large macules, uniform palmar hypopigmentation, diffuse hyperpigmentation with spotty depigmented macules, and unilateral involvement. DUH has been reported to be associated with various cutaneous and systemic diseases. The authors have observed cases of DUH associated with hepatocellular carcinoma, solitary keratoacanthoma, and dermoid cyst. The various diagnostic modalities include dermoscopy, histopathology, electron microscopy, and targeted gene sequencing. Though various treatment modalities like NBUVB and lasers have been tried, no treatment is promising.

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Biological clock regulation by the PER gene family: a new perspective on tumor development

Chen,

Wang,

et al. 2024

Front. Cell Dev. Biol.

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The Period (PER) gene family is one of the core components of the circadian clock, with substantial correlations between the PER genes and cancers identified in extensive researches. Abnormal mutations in PER genes can influence cell function, metabolic activity, immunity, and therapy responses, thereby promoting the initiation and development of cancers. This ultimately results in unequal cancers progression and prognosis in patients. This leads to variable cancer progression and prognosis among patients. In-depth studies on the interactions between the PER genes and cancers can reveal novel strategies for cancer detection and treatment. In this review, we aim to provide a comprehensive overview of the latest research on the role of the PER gene family in cancer.

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The PER3rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria

Cited by 3 publications

References 42 publications

Retyping and molecular pathology diagnosis of dyschromatosis universalis hereditaria

Retyping and molecular pathology diagnosis of dyschromatosis universalis hereditaria

Dyschromatosis universalis hereditaria

Biological clock regulation by the PER gene family: a new perspective on tumor development

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