[The Polymorphism Analysis of HLA Class II Alleles Based on Next-Generation Sequencing and Prevention Strategy for Allele Dropout].

Objective: To investigate the accuracy of next-generation sequencing technology (NGS) in detecting the polymorphisms of and alleles in randomly-selected unrelated healthy individuals from Shenzhen Han population, investigate the potential reason for allele dropout in routine NGS, and establish an internal quality control system.

Methods: NGS-based HLA class II genotyping was performed on 1 012 samples using the MiSeqDx platform. The suspected missed alleles indicated by the quality control software and homozygotes were confirmed by PCR-SSOP or PCR-SBT methods.

FAM21 interacts with Ku to promote the localization of WASH to DNA double strand break sites.

Cytoplasmic FAM21 works as a guiding protein in Wiskott-Aldrich Syndrome Protein and SCAR Homolog (WASH) complex by linking WASH complex to endosomes through its interaction with retromer. Recently, we have reported that nuclear WASH localizes to DNA double strand break (DSB) sites to promote DNA repair through non-homologous end-joining (NHEJ). However, whether FAM21, the close partner of WASH, is involved in the nuclear WASH localization and DNA repair remains to be clarified.

Identification of the novel HLA-B*46:01:33 allele by next generation sequencing in a Chinese individual.

B*46:01:33 differs from B*46:01:01:01 by one nucleotide change at nucleotide 105 in exon 2 from C to T.

Naturally occurring anti-PP1P in a Chinese individual with p phenotype: A case based on compound heterozygosity including one novel allele.

Background: The null phenotype in P1PK blood group, known as "p," is extremely rare in the whole world. Individuals of p phenotype spontaneously form anti-PP1P isoantibody. Here, we report a case of p phenotype with naturally occurring anti-PP1P isoantibodies in a Chinese individual.

WASHC1 interacts with MCM2-7 complex to promote cell survival under replication stress.

Background: WASHC1 is a member of the Wiskott-Aldrich syndrome protein (WASP) family and is involved in endosomal protein sorting and trafficking through the generation of filamentous actin (F-actin) via activation of the Arp2/3 complex. There is increasing evidence that WASHC1 is present in the nucleus and nuclear WASHC1 plays important roles in regulating gene transcription, DNA repair as well as maintaining nuclear organization. However, the multi-faceted functions of nuclear WASHC1 still need to be clarified.

ITRAQ-based quantitative proteomic analysis reveals that VPS35 promotes the expression of MCM2-7 genes in HeLa cells.

Vacuolar protein sorting 35 (VPS35) is a major component of the retromer complex that regulates endosomal trafficking in eukaryotic cells. Recent studies have shown that VPS35 promotes tumor cell proliferation and affects the nuclear accumulation of its interacting partner. In this study, isobaric tags for relative and absolute quantitation (iTRAQ)-based mass spectrometry were used to measure the changes in nuclear protein abundance in VPS35-depleted HeLa cells.

WASH interacts with Ku to regulate DNA double-stranded break repair.

The Wiskott-Aldrich syndrome protein and SCAR homolog (WASH), an actin nucleation-promoting factor, is present in the nucleus where it regulates gene transcription and maintains nuclear organization. Here, we show that WASH interacts with core non-homologous end-joining (NHEJ) factors including Ku70/Ku80 and DNA-PKcs, and Ku70/Ku80 is involved in the recruitment of WASH to the sites of DNA double-stranded break (DSB). WASH depletion leads to increased cell sensitivity and impaired DNA repair capacity in response to etoposide-induced DSBs and reduces NHEJ efficiency.

Identification of the novel KIR3DL1*00702 allele in a Northern Chinese Han individual.

The novel KIR3DL1*00702 allele differs from the closest allele KIR3DL1*00701 by a single silent mutation.

Discovery of the novel HLA-C*01:179 allele in a southern Chinese patient.

One nucleotide substitution in codon 189 of HLA-C*01:02:01:01 results in a novel allele, HLA-C*01:179.

A substitution in exon 2 resulted in the novel HLA-A*30:140 variant identified in a Chinese individual.

HLA-A*30:140 differs from HLA-A*30:01:01 by one nucleotide change in exon 2 at position 341 (C > A).

Identification of the HLA-DPA1*02:33 allele by next-generation sequencing in a Chinese individual.

The HLA-DPA1*02:33 allele differs from DPA1*02:02:02:04 by two nucleotide change in exon 4.

Effects of ER-resident and secreted AGR2 on cell proliferation, migration, invasion, and survival in PANC-1 pancreatic cancer cells.

Background: Anterior gradient-2 (AGR2) is a proto-oncogene involved in tumorigenesis and cancer progression. AGR2, predominantly localized in the endoplasmic reticulum (ER), is also a secreted protein detected in the extracellular compartment in multiple cancers. However, the biological functions of intracellular and extracellular AGR2 remain to be elucidated.

KIR3DL1 and HLA-Bw4 Interaction Showed a Favorable Role in Patients with Myelodysplastic Syndromes in Chinese Southern Han.

Background: The association studies of killer cell immunoglobulin-like receptors (KIRs) with the occurrence of myelodysplastic syndromes (MDS) are limited worldwide; this study investigated the genetic risk/protective factors of MDS in KIR and human leucocyte antigen (HLA) systems to gain a better understanding of the role played by KIR and their cognate HLA ligands in MDS pathogenesis.

Methods: We genotyped a total number of 77 patients with MDS from Chinese Southern Han and 745 healthy controls for the loci and . The carrier frequencies of genes, genotypes, ligands, and combinations were calculated by direct counting.

Identification of HLA-A*24:02:78 by next-generation sequencing in a Chinese Han individual.

HLA-A*24:02:78 differs from HLA-A*24:02:01:01 in exon 3 by a single nucleotide.

The novel KIR2DL4*038 allele identified by sequencing-based typing in a Chinese Naxi individual.

The novel KIR2DL4*038 allele differs from the closest allele KIR2DL4*00102 by a single missense mutation.

Description of the novel KIR2DL4*00603 allele identified in a Chinese Hani individual.

The novel KIR2DL4*00603 allele differs from the closest allele KIR2DL4*00602 by a silent mutation.

Description of the novel KIR3DL3*063 allele identified in a Southern Chinese Han individual.

The novel KIR3DL3*063 allele differs from the closest allele KIR3DL3*04802 by a single missense mutation.