Ask about this productRelated genes to: FAM160B1 Blocking Peptide
- Gene:
- FAM160B1 NIH gene
- Name:
- family with sequence similarity 160 member B1
- Previous symbol:
- KIAA1600
- Synonyms:
- bA106M7.3
- Chromosome:
- 10q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-02-18
- Date modifiied:
- 2018-11-15
Related products to: FAM160B1 Blocking Peptide
Related articles to: FAM160B1 Blocking Peptide
- Body conformation is the most direct production index, which can fully reflect pig growth status and is closely related to critical economic traits. In this study, we conducted a genome-wide association study (GWAS) on body conformation traits in a population of 1518 Duroc × (Landrace × Yorkshire) commercial pigs. These traits included body length (BL), body height (BH), chest circumference (CC), abdominal circumference (AC), and waist circumference (WC). Both the mixed linear model (MLM) and fixed and random model circulating probability unification (FarmCPU) approaches were employed for the analysis. Our findings revealed 60 significant single nucleotide polymorphisms (SNPs) associated with these body conformation traits in the crossbred pig population. Specifically, sixteen SNPs were significantly associated with BL, three SNPs with BH, thirteen SNPs with CC, twelve SNPs with AC, and sixteen SNPs with WC. Moreover, we identified several promising candidate genes located within the genomic regions associated with body conformation traits. These candidate genes include , , , , , , , , , , and . Furthermore, our analysis revealed a novel significant quantitative trait locus (QTL) on SSC7 specifically associated with waist circumference, spanning an 84 kb interval. Overall, the identification of these significant SNPs and potential candidate genes in crossbred commercial pigs enhances our understanding of the genetic basis underlying body conformation traits. Additionally, these findings provide valuable genetic resources for pig breeding programs. - Source: PubMed
Publication date: 2023/07/26
Deng ShaoxiongQiu YibinZhuang ZhanweiWu JieLi XuehuaRuan DonglinXu CinengZheng EnqingYang MingCai GengyuanYang JieWu ZhenfangHuang Sixiu - Intellectual disability (ID) varies in severity and is often associated with a variety of other clinical features. In consanguineous populations ID is usually inherited in an autosomal recessive fashion. Many genes are known for the condition, but many more are yet to be identified. By linkage analysis and exome sequencing we identified homozygous early truncating variant c.115G > T (p.Glu39*) in FAM160B1 in a 38-year-old woman with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism. Recently homozygous missense c.248 T > C (p.Leu83Pro) was reported to underlie the ID syndrome in a 7-year-old boy and his two younger siblings. Some findings for those siblings overlap with those for our patient, but our patient does not have cutis laxa. Our findings confirm FAM160B1, with unknown function, as a syndromic ID gene and indicate that FAM160B1 is not essential for survival but is vital for proper functioning of the nervous system, delineate the FAM160B1-related ID, and describe the disease in a much older age. - Source: PubMed
Publication date: 2019/08/06
Mavioğlu Rezan NehirKara BülentAkansel GürNalbant GökhanTolun Aslıhan - Our study aimed to identify prognosis related epigenetic interactions of DNA methylation-miRNA-gene in lung adenocarcinoma. The RNA-seq, DNA methylation, and miRNA-seq data of squamous cell cancer samples were downloaded from TCGA. The DNA methylation-miRNA-gene interactions were collected via Illumina methylation platform and miRTarBase database. Linear regression model was utilized for the identification of epigenetic interactions. The epigenetic interactions related to prognosis were selected via Kaplan-Meier analysis. Genes in the interactions were used for pathway enrichment. Differentially expressed genes (DEGs) between high methylation level / high miRNA expression level (H/H) and low methylation level / low miRNA expression level (L/L) samples were screened. The correlations of epigenetic interactions with clinical features were also explored. Total of 454 lung adenocarcinoma patient samples were collected. The 1063 interactions were comprised of 1083 DNA methylation probes, 271 miRNAs and 528 genes, including cg14146378-hsa-mir-205-ARID1B, cg15375596-has-miR-1275-IGF1R, cg26691953-hsa-mir-195-CCNT1, etc. A total of 95 epigenetic interactions were significantly associated with prognosis. Among all the identified DEGs, low-expressed RASSF4, ZNF704, TFDP1, PLXNB2, TMC04, ZNF878, ARIDIB and high-expressed ZNF704, ZNF451, THOP1, IGF1R were related with poor prognosis; while low-expressed LDHB, ARID2, PRKCSH, HDAC4, NIPA1, RABAC1, TRIM28 and high-expressed FAM160B1, DNAAF3, CCNT1, ADAP1, ZFPM1, CCL11 were related with good prognosis. Fifteen epigenetic interactions were significantly related with clinical features. Gene expression and N-glycan trimming in the ER and Calnexin/Calreticulin cycle were two significant enriched pathways. Interactions of cg14146378-hsa-mir-205-ARID1B and cg15375596-has-miR-1275-IGF1R may be used as the prognosis indicators in lung adenocarcinoma. - Source: PubMed
Publication date: 2019/03/07
Liu HZhao H - Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. In this study, we prospectively assessed the diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in a cohort of 337 ID subjects as a first-tier test and compared it with a standard clinical evaluation performed in parallel. Standard clinical evaluation suggested a diagnosis in 16% of cases (54/337) but only 70% of these (38/54) were subsequently confirmed. On the other hand, the genomic approach revealed a likely diagnosis in 58% (n=196). These included copy number variants in 14% (n=54, 15% are novel), and point mutations revealed by multi-gene panel and exome sequencing in the remaining 43% (1% were found to have Fragile-X). The identified point mutations were mostly recessive (n=117, 81%), consistent with the high consanguinity of the study cohort, but also X-linked (n=8, 6%) and de novo dominant (n=19, 13%). When applied directly on all cases with negative molecular karyotyping, the diagnostic yield of exome sequencing was 60% (77/129). Exome sequencing also identified likely pathogenic variants in three novel candidate genes (DENND5A, NEMF and DNHD1) each of which harbored independent homozygous mutations in patients with overlapping phenotypes. In addition, exome sequencing revealed de novo and recessive variants in 32 genes (MAMDC2, TUBAL3, CPNE6, KLHL24, USP2, PIP5K1A, UBE4A, TP53TG5, ATOH1, C16ORF90, SLC39A14, TRERF1, RGL1, CDH11, SYDE2, HIRA, FEZF2, PROCA1, PIANP, PLK2, QRFPR, AP3B2, NUDT2, UFC1, BTN3A2, TADA1, ARFGEF3, FAM160B1, ZMYM5, SLC45A1, ARHGAP33 and CAPS2), which we highlight as potential candidates on the basis of several lines of evidence, and one of these genes (SLC39A14) was biallelically inactivated in a potentially treatable form of hypermanganesemia and neurodegeneration. Finally, likely causal variants in previously published candidate genes were identified (ASTN1, HELZ, THOC6, WDR45B, ADRA2B and CLIP1), thus supporting their involvement in ID pathogenesis. Our results expand the morbid genome of ID and support the adoption of genomics as a first-tier test for individuals with ID. - Source: PubMed
Publication date: 2016/07/19
Anazi SMaddirevula SFaqeih EAlsedairy HAlzahrani FShamseldin H EPatel NHashem MIbrahim NAbdulwahab FEwida NAlsaif H SAl Sharif HAlamoudi WKentab ABashiri F AAlnaser MAlWadei A HAlfadhel MEyaid WHashem AAl Asmari ASaleh M MAlSaman AAlhasan K AAlsughayir MAl Shammari MMahmoud AAl-Hassnan Z NAl-Husain MOsama Khalil RAbd El Meguid NMasri AAli RBen-Omran TEl Fishway PHashish AErcan Sencicek AState MAlazami A MSalih M AAltassan NArold S TAbouelhoda MWakil S MMonies DShaheen RAlkuraya F S - [This corrects the article DOI: 10.7555/JBR.29.20150034.]. - Source: PubMed