AMELY
- Known as:
- AMELY
- Catalog number:
- 001521A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- AMELY
Related genes to: AMELY
- Gene:
- AMELY NIH gene
- Name:
- amelogenin Y-linked
- Previous symbol:
- AMGL
- Synonyms:
- -
- Chromosome:
- Yp11.2
- Locus Type:
- gene with protein product
- Date approved:
- 1988-08-31
- Date modifiied:
- 2018-04-26
Related products to: AMELY
Related articles to: AMELY
- Sex-inference in forensic DNA analysis is a critical investigative parameter, commonly relying on the Amelogenin locus, along with the Y-Indel marker (rs2032678) and a limited set of Y-chromosomal markers included in autosomal STR multiplexes and quantitative PCR assays. However, structural rearrangements of the Y chromosome can result in discordant profiles that misidentify phenotypically male individuals as "false females" in standard autosomal kits. We report an exceptionally rare case from central India exhibiting three convergent genetic anomalies in a phenotypic male blood sample: the loss of primary forensic sex markers (AMELY/Y-Indel), X-chromosomal heterozygosity and an extensive Yq deletion. This "triple-failure" haplotype (AMELY-/Y-InDel-/Yq-) represents unprecedented complexity combining South Asian-pattern Yp11.2 microdeletion with massive Yq loss and X-chromosomal diploidy. Moreover, Quantification discordance occurs between Quantifiler Trio and PowerQuant confirmed selective Yq loss, while SRY positivity and NGS validation established male genetic sex. YHRD Release R69 analysis of the partial Yfiler Plus profile revealed no matches worldwide (n = 106,444; RMP <1/106,444, 95% CI up to 1/28,856) or in Eurasian-Indian (n = 1240; RMP <1/1240, 95% CI up to 1/337) and Indian national (n = 1238; RMP <1/1238, 95% CI up to 1/336) databases. The case exposes critical diagnostic limitations of single-target sex typing and Yq-biased quantification in structural variants, underscoring the need for redundant markers (SRY, Yp STRs, multi-Y qPCR targets). Integrated STR/NGS analysis with database frequency assessment remains essential for resolving such "ghost" Y-profiles in forensics. - Source: PubMed
Publication date: 2026/08/29
Shrivastav Vivek KumarBhati PraveeshKaitholia KamleshShukla Deepali - remains have been found in Africa, Eurasia, and Southeast Asia, with a fossil record dating back to 2 million years, holding a significant place in human evolution. However, due to limited molecular evidence, its genetic characteristics, diversity, and potential connections to other archaic homonins and modern humans have long remained unresolved. To address these issues, a research team led by Qiaomei Fu from the Institute of Vertebrate Paleontology and Paleoanthropology of the Chinese Academy of Sciences, in collaboration with other archaeological institutions, successfully extracted ancient enamel proteins from six Middle Pleistocene teeth (~0.4 Ma) from the Zhoukoudian, Hexian, and Sunjiadong sites. Further in-depth paleoproteomic analyses revealed the following breakthroughs. First, a quantitative sex determination pipeline was established based on male-specific amelogenin, Y isoform (AMELY), confirming that five of these specimens are male and one is female. Second, two genetically specific amino acid variants in ameloblastin (AMBN) were identified in all specimens from three sites. One is a newly discovered variant, AMBN-253G, which has not been found in any other archaic or modern human populations. It represents a molecular marker specific to the East Asian Middle Pleistocene lineage, providing solid evidence that specimens from Zhoukoudian, Hexian, and Sunjiadong sites belonged to the same evolutionary lineage. The other variant, AMBN-273V, has previously been identified in Denisovans. However, genetic analysis in this study reveals that this variant may have been introduced into Denisovans through populations related to these Middle Pleistocene , and some of which subsequently contributed to certain modern human populations from Southeast Asia or Oceania. This study obtains lineage-specific molecular information from fossils for the first time, and reshapes our understanding of hominin evolution and the history of genetic admixture in East Asia. - Source: PubMed
Zou Zi-YiRao Hui-YunFu Qiao-Mei - To investigate the abnormal genotyping and its causes at the locus in male samples. - Source: PubMed
Liu ZhenpingYe ZhihuaTong JijunSong JiahuiWu WeiweiHao HongleiFu YanfangZhai Xiandun - Sex determination is critical in criminal investigations, particularly when male and female DNA is mixed. In this case, although semen indicators were detected, human identification protocols revealed extremely low male DNA concentrations and incomplete Y-chromosomal short tandem repeat (Y-STR) profiles. Autosomal short tandem repeat (A-STR) results from the used tissues and pubic hairs showed an A-STR pattern consistent with a female genotype, lacking Y-chromosome loci (DYS391, Y-indel, and AMELY (Amelogenin gene located on the Y chromosome), whereas the same reduced Y-STR profile was observed across some samples. Despite the low male contribution, the suspect's A-STR profile was still detectable within the mixed DNA. Additional sex-marker analyses, including SRY (Sex-determining region of the Y chromosome) and X-chromosomal short tandem repeat (X-STR) profiling, confirmed the presence of SRY and revealed heterozygous X-STR patterns, suggesting an atypical male genotype involving possible azoospermia or partial Y-chromosomal loss. These findings align with several potential genetic explanations, including Y-to-X translocation, XXY syndrome, major Y-chromosome deletions, or XX-male syndrome. This case underscores the importance of carefully interpreting reduced Y-STR patterns in sexual assault investigations and highlights the value of incorporating SRY testing when conventional sex-determination markers are inconclusive. - Source: PubMed
Publication date: 2026/03/08
Park Sun HeeLee Mu YeongLee KyungmyungShin Sang CheulKim Eung SooSong Joon Myong - Male mammals are of particular interest for molecular systematics as their cells contain two non-recombinant markers, the mitochondrial genome and the male-specific Y chromosome (MSY), which provide information on maternal and paternal evolutionary histories, respectively. Here, we assembled four single-copy MSY genes (AMELY, DDX3Y, SRY and ZFY), three homologs on the X chromosome, the mitogenome, and 21 autosomal introns from whole genome sequencing (WGS) data available for 123 male giraffes. We detected several instances of introgression between giraffe subspecies involving the mitogenome, MSY, and X-linked genes. The analysis of MSY haplotypes supports a deep separation in Africa between northern giraffes (subspecies antiquorum, peralta, rothschildi, and reticulata) and southern giraffes, with a large gap between intragroup and intergroup DNA distances (referred to as the 'MSY barcoding gap'). At a finer scale, southern giraffes can be divided into two geographic MSY groups that are distributed in East Africa (comprising the subspecies tippelskirchi and thornicrofti) and southern Africa (comprising the subspecies giraffa and wardi). These relationships are all supported by several exclusive synapomorphies in most DNA datasets. Our results provide strong support for two species of Giraffa, i.e., G. camelopardalis (northern giraffes) and G. giraffa (southern giraffes), but with ZFX alleles showing evidence of ancient introgression between the two taxa. The delimitation of Giraffa in two species is consistent with skull morphology and the evolution of highly distinctive phenotypes (reticulated versus Masai) in the hybrid zone between northern and southern species in southern Kenya which may have promoted the reinforcement of prezygotic isolation, thus limiting gene flow between them. - Source: PubMed
Publication date: 2026/02/11
Hassanin AlexandreJullemier EvaChardonnet BertrandRobinson Terence J