Mitochondrial DNA diversity in prehispanic bone remains on the eastern Colombian Andes

Casas-Vargas, Andrea; Romero, Liza M.; Usaquén, William; Zea, Sara; Silva, Margarita; Briceño, Ignacio; Gómez, Alberto; Rodríguez, José Vicente

doi:10.7705/biomedica.v37i4.3377

Cited by 7 publications

(2 citation statements)

References 44 publications

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“…The two subjects, here referred to as OBX1 and OBX2 (Figure 1), are sisters within a highly consanguineous family of Colombian origin (Figure 2C). Their ethnical origin is from the Muisca [48] indigenous group of the Altiplano Cundiboyacense, Colombia [49]. The majority of mutations of LEP have been associated with high rates of consanguinity [12], as in the present case.…”

Section: Discussionmentioning

confidence: 85%

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity

Yupanqui-Lozno¹,

Bastarrachea

Yupanqui-Velazco³

et al. 2019

Genes

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Background: Congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (LEP) gene, which encodes the protein product leptin. These mutations may cause nonsense-mediated mRNA decay, defective secretion or the phenomenon of biologically inactive leptin, but typically lead to an absence of circulating leptin, resulting in a rare type of monogenic extreme obesity with intense hyperphagia, and serious metabolic abnormalities. Methods: We present two severely obese sisters from Colombia, members of the same lineal consanguinity. Their serum leptin was measured by MicroELISA. DNA sequencing was performed on MiSeq equipment (Illumina) of a next-generation sequencing (NGS) panel involving genes related to severe obesity, including LEP. Results: Direct sequencing of the coding region of LEP gene in the sisters revealed a novel homozygous missense mutation in exon 3 [NM_002303.3], C350G>T [p.C117F]. Detailed information and clinical measurements of these sisters were also collected. Their serum leptin levels were undetectable despite their markedly elevated fat mass. Conclusions: The mutation of LEP, absence of detectable leptin, and the severe obesity found in these sisters provide the first evidence of monogenic leptin deficiency reported in the continents of North and South America.

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Section: Discussionmentioning

confidence: 85%

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity

Yupanqui-Lozno¹,

Bastarrachea

Yupanqui-Velazco³

et al. 2019

Genes

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“…In addition, a recent study of ancient human bones belonging to a Native Colombian group belonging to the Chibcha “Muisca” family from the IX to XVI centuries A.D. in the eastern Colombian Andes identified one male carrying allele 6 at locus DYS391 [ 60 ]. Based on this archeological finding, it is possible to confirm the presence of this allele in the genetic pool of Native Chibchan Nativepeople dating back to prehistoric times.…”

Section: Resultsmentioning

confidence: 99%

Paternal portrait of populations of the middle Magdalena River region (Tolima and Huila, Colombia): New insights on the peopling of Central America and northernmost South America

et al. 2018

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The valley of the Magdalena River is one of the main population pathways in Colombia. The gene pool and spatial configuration of human groups in this territory have been outlined throughout three historical stages: the Native pre-Hispanic world, Spanish colonization, and XIX century migrations. This research was designed with the goal of characterizing the diversity and distribution pattern of Y-chromosome lineages that are currently present in the Tolima and Huila departments (middle Magdalena River region). Historic cartography was used to identify the main geographic sites where the paternal lineages belonging to this area have gathered. Twelve municipalities were chosen, and a survey that included genealogical information was administered. Samples collected from 83 male volunteers were analyzed for 48 Y-SNPs and 17 Y-STRs. The results showed a highly diverse region characterized by the presence of 16 sublineages within the major clades R, Q, J, G, T and E and revealed that 93% (n = 77) of haplotypes were different. Among these haplogroups, European-specific R1b-M269 lineages were the most representative (57.83%), with six different subhaplogroups and 43 unique haplotypes. Native American paternal ancestry was also detected based on the presence of the Q1a2-M3*(xM19, M194, M199) and Q1a2-M346*(xM3) lineages. Interestingly, all Q1a2-M346*(xM3) samples (n = 7, with five different haplotypes) carried allele six at the DYS391 locus. This allele has a worldwide frequency of 0.169% and was recently associated with a new Native subhaplogroup. An in-depth phylogenetic analysis of these samples suggests the Tolima and Huila region to be the principal area in all Central and South America where this particular Native lineage is found. This lineage has been present in the region for at least 1,809 (+/- 0,5345) years.

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Human ancient DNA analysis in Latin America: Current state and challenges

de la Fuente Castro,

Figueiro

2024

Archaeometry

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Ancient DNA analysis has greatly contributed to understanding the population history of several species. In the last 20 years, the field has undergone an important transformation: particularly in our species, thousands of ancient genomes have been analyzed worldwide, providing evidence of population movements and interactions through time. However, several researchers have raised concerns about the way the field is developing and how collaborations are being established. In this work, we describe and evaluate the situation in Latin America, considering both what we have learned about population history through paleogenetics and how it has developed in the region.

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Mitochondrial DNA diversity in prehispanic bone remains on the eastern Colombian Andes

Cited by 7 publications

References 44 publications

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity

Paternal portrait of populations of the middle Magdalena River region (Tolima and Huila, Colombia): New insights on the peopling of Central America and northernmost South America

Human ancient DNA analysis in Latin America: Current state and challenges

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