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Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics.通过转录组学和基于抗体的蛋白质组学的全基因组整合分析人类组织特异性表达。
Mol Cell Proteomics. 2014 Feb;13(2):397-406. doi: 10.1074/mcp.M113.035600. Epub 2013 Dec 5.
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.ANNOVAR：从高通量测序数据中注释遗传变异的功能。
Nucleic Acids Res. 2010 Sep;38(16):e164. doi: 10.1093/nar/gkq603. Epub 2010 Jul 3.
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The mental-mental muddle and work comp in Oregon.俄勒冈州的精神错乱与工伤赔偿
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Multiple extra-medullary plasmacytomas of the skin. Case report with a note on prognosis.皮肤多发性髓外浆细胞瘤。病例报告及预后说明
Br J Dermatol. 1974 Feb;90(2):217-21. doi: 10.1111/j.1365-2133.1974.tb06389.x.
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Breast feeding and child development at five years.母乳喂养与儿童五岁时的发育
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[Spontaneous thrombocyte aggregation and blood sugar profile in children with diabetes mellitus type I treated with human and porcine insulin].[使用人胰岛素和猪胰岛素治疗的I型糖尿病儿童的自发性血小板聚集和血糖谱]
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Immunocytochemical evidence for phorbol ester-induced protein kinase C translocation in HL60 cells.佛波酯诱导HL60细胞中蛋白激酶C易位的免疫细胞化学证据。
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C3ORF52基因功能缺失变异导致局限性常染色体隐性少毛症。

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.

作者信息

Malki Liron, Sarig Ofer, Cesarato Nicole, Mohamad Janan, Canter Talia, Assaf Sari, Pavlovsky Mor, Vodo Dan, Anis Yossi, Bihari Ofer, Malovitski Kiril, Gat Andrea, Thiele Holger, White Bethany E Perez, Samuelov Liat, Nanda Arti, Paller Amy S, Betz Regina C, Sprecher Eli

机构信息

Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.

出版信息

Genet Med. 2020 Jul;22(7):1227-1234. doi: 10.1038/s41436-020-0794-5. Epub 2020 Apr 27.

DOI:10.1038/s41436-020-0794-5
PMID:32336749
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7405639/
Abstract

PURPOSE

Localized autosomal recessive hypotrichosis (LAH) has been associated with pathogenic variants in DSG4, encoding a desmosomal protein as well as in LIPH and LPAR6, encoding respectively lipase H, which catalyzes the formation of 2-acyl-lysophosphatidic acid (LPA), and lysophosphatidic acid receptor 6, a receptor for LPA. LPA promotes hair growth and differentiation. In this study we aimed at delineating the genetic basis of LAH in patients without pathogenic variants in these three genes.

METHODS

Variant analysis was conducted using exome and direct sequencing. We then performed quantitative reverse transcription polymerase chain reaction (RT-qPCR), immunofluorescence staining, immunoblotting, enzymatic, and coimmunoprecipitation assays to evaluate the consequences of potential etiologic variants.

RESULTS

We identified homozygous variants in C3ORF52 in four individuals with LAH. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H-mediated LPA biosynthesis.

CONCLUSION

LAH can be caused by abnormal function of at least three proteins which are necessary for proper LPA biosynthesis.

摘要

目的

局限性常染色体隐性少毛症（LAH）与DSG4（编码一种桥粒蛋白）、LIPH（编码脂肪酶H，催化2-酰基溶血磷脂酸（LPA）的形成）以及LPAR6（LPA的一种受体）的致病变异有关。LPA可促进头发生长和分化。在本研究中，我们旨在明确在这三个基因中无致病变异的LAH患者的遗传基础。

方法

采用外显子组测序和直接测序进行变异分析。然后，我们进行了定量逆转录聚合酶链反应（RT-qPCR）、免疫荧光染色、免疫印迹、酶学和免疫共沉淀分析，以评估潜在病因变异的影响。

结果

我们在4例LAH患者中鉴定出C3ORF52基因的纯合变异。发现C3ORF52与毛囊内根鞘中的脂肪酶H共表达，且这两种蛋白可直接相互作用。导致LAH的变异与C3ORF52表达降低有关，并导致脂肪酶H介导的LPA生物合成显著减少。

结论

LAH可能由至少三种对LPA正常生物合成所必需的蛋白质的功能异常引起。

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