Haplotype diversity of 17 Y-str loci in an admixed population from the Brazilian Amazon

Francez, Pablo Abdon da Costa; Ramos, Luiz Patrick Vidal; Palha, Teresinha de Jesus Brabo Ferreira; Santos, Sidney Emanuel Batista dos

doi:10.1590/s1415-47572011005000061

Cited by 5 publications

(5 citation statements)

References 14 publications

(24 reference statements)

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“…The origin of haplogroup R is located in Central to West Asia, although a precise region has not yet been determined. The R1b branch is the most abundant haplotype identified in South American countries [Guerra et al, ; Francez et al, ; Watkins et al, ], consistent with historical accounts of male admixture in colonies of Spain and Portugal, where this haplogroup is common [Adams et al, ]. However, the haplogroups E1 and J, also found in our patients, are infrequently observed in the Iberian Peninsula.…”

Section: Discussionsupporting

confidence: 89%

The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Gonçalves

Fridman

Pinto

et al. 2014

American J of Med Genetics Pt A

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Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gene. The most frequent GHR mutation is E180splice (rs121909360), which was initially found in an inbred population of Spanish descent in Ecuador and subsequently in Israel, Brazil, Chile, and the United States. The aim of the present study is to determine if the E180splice mutation arose from a common origin. We studied 22 patients with LS from Ecuador, Israel (of Moroccan origin), Brazil, Chile, and the United States (of Mexican origin) who were homozygous for the E180splice mutation and compared them to control individuals for markers surrounding the GHR, intragenic polymorphisms, and Y-chromosome STR. An identical haplotype was found in all but one of the subjects carrying the E180splice mutation: D5S665: 150/150; D5S2082: 192/192; D5S2087: 246/246; rs6179 G/G; and rs6180 C/C. One patient differed from the others only at D5S2082 (168/192). This haplotype is rare (~1%) in control individuals and confirmed that the E180splice-associated haplotype was not derived from independent origins but represented recombination from a common ancestor. The analysis of paternal lineage markers showed that 50% belong to haplogroup R1b (found in Portugal and Spain) and 40% to haplogroups J and E (typical in the Middle East and in Eastern European Jews). The germline E180Splice mutation appears to have originated from a single common ancestor. The presence of Y-chromosome markers associated with Sephardic populations in persons harboring the E180splice mutation provides genetic evidence in support of the historical tracking of the exodus of this specific population.

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Section: Discussionsupporting

confidence: 89%

The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Gonçalves

Fridman

Pinto

et al. 2014

American J of Med Genetics Pt A

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“…Nevertheless, for most studies on Y chromosome diversity in Brazilian populations, only Y-STRs (e.g., [19,30,31,32,33]) or just a restricted number of SNP markers (e.g., [26,34,35]) were studied, which often limited the accuracy of ancestry estimates derived from the three continents. Regarding the studies on the mtDNA variability in Brazilian populations, a very high percentage has been dedicated to small communities of Native Americans and Afro-descendants (e.g., [15]), but only few describe the composition of urban admixed populations [16,36].…”

Section: Discussionmentioning

confidence: 99%

“…Since the beginning of its application to population genetics, lineage markers have been used to understand the complex process of admixture and to characterise the mating patterns across the country (e.g., [15,16,17,18,19]). More recently, a series of studies were undertaken using autosomal markers representing different types of DNA variation, namely, Short Tandem Repeats (STRs), Single Nucleotide polymorphisms (SNPs) and Insertion-deletions (Indels) (e.g., [3,11,12,20]).…”

Section: Introductionmentioning

confidence: 99%

Revisiting the Genetic Ancestry of Brazilians Using Autosomal AIM-Indels

et al. 2013

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There are many different studies that contribute to the global picture of the ethnic heterogeneity in Brazilian populations. These studies use different types of genetic markers and are focused on the comparison of populations at different levels. In some of them, each geographical region is treated as a single homogeneous population, whereas other studies create different subdivisions: political (e.g., pooling populations by State), demographic (e.g., urban and rural), or ethnic (e.g., culture, self-declaration, or skin colour). In this study, we performed an enhanced reassessment of the genetic ancestry of ~ 1,300 Brazilians characterised for 46 autosomal Ancestry Informative Markers (AIMs). In addition, 798 individuals from twelve Brazilian populations representing the five geographical macro-regions of Brazil were newly genotyped, including a Native American community and a rural Amazonian community. Following an increasing North to South gradient, European ancestry was the most prevalent in all urban populations (with values up to 74%). The populations in the North consisted of a significant proportion of Native American ancestry that was about two times higher than the African contribution. Conversely, in the Northeast, Center-West and Southeast, African ancestry was the second most prevalent. At an intrapopulation level, all urban populations were highly admixed, and most of the variation in ancestry proportions was observed between individuals within each population rather than among population. Nevertheless, individuals with a high proportion of Native American ancestry are only found in the samples from Terena and Santa Isabel. Our results allowed us to further refine the genetic landscape of Brazilians while establishing the basis for the effective application of an autosomal AIM panel in forensic casework and clinical association studies within the highly admixed Brazilian populations.

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“…1Additional information based on uniparental or X-linked markers can be found as follows: (a) mtDNA only: Carvalho et al (2008); (b) mtDNA plus Y-chromosome: RibeirodosSantos et al (2002), Marrero et al (2005, 2007), Hünemeier et al (2007), Guerreiro-Junior et al (2009); (c) Y-chromosome only: Carvalho-Silva et al (2001), Ferreira et al (2006), Silva et al (2006), Ribeiro et al (2009), Carvalho et al (2010), Palha et al (2011), Ribeiro et al (2011), Francez et al (2012); (d) X-linked only: Ribeiro-Rodrigues et al (2009), Resque et al (2010).2Key to sampling criteria: 1. Random; 2.…”

Section: Tablementioning

confidence: 99%

Interethnic admixture and the evolution of Latin American populations

2014

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A general introduction to the origins and history of Latin American populations is followed by a systematic review of the data from molecular autosomal assessments of the ethnic/continental (European, African, Amerindian) ancestries for 24 Latin American countries or territories. The data surveyed are of varying quality but provide a general picture of the present constitution of these populations. A brief discussion about the applications of these results (admixture mapping) is also provided. Latin American populations can be viewed as natural experiments for the investigation of unique anthropological and epidemiological issues.

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Haplotype diversity of 17 Y-str loci in an admixed population from the Brazilian Amazon

Cited by 5 publications

References 14 publications

The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Revisiting the Genetic Ancestry of Brazilians Using Autosomal AIM-Indels

Interethnic admixture and the evolution of Latin American populations

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