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The E180splice Mutation in the GHR Gene Causing Laron Syndrome: Witness of a Sephardic Jewish Exodus from the Iberian Peninsula to the New World?

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Autor(es):
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Goncalves, Fernanda T. [1] ; Fridman, Cintia [1] ; Pinto, Emilia M. [2, 3] ; Guevara-Aguirre, Jaime [4, 5] ; Shevah, Orit [6] ; Rosembloom, Arlan L. [7] ; Hwa, Vivian [8] ; Cassorla, Fernando [9] ; Rosenfeld, Ron G. [8] ; Lins, Theresa S. S. [10] ; Damiani, Durval [11] ; Arnhold, Ivo J. P. [2, 3] ; Laron, Zvi [6] ; Jorge, Alexander A. L. [2, 3]
Número total de Autores: 14
Afiliação do(s) autor(es):
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[1] Univ Sao Paulo, Fac Med, Hosp Clin, Lab Imunohematol & Hematol Forense LIM40, Dept Med, BR-01246903 Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Lab Hormonios & Genet Mol LIM 42, BR-01246903 Sao Paulo - Brazil
[3] Univ Sao Paulo, Fac Med, Unidade Endocrinol Genet LIM 25, BR-01246903 Sao Paulo - Brazil
[4] Univ San Francisco Quito, Fac Med, Quito - Ecuador
[5] Inst Endocrinol IEMYR, Quito - Ecuador
[6] Schneider Childrens Med Ctr, Endocrinol & Diabet Res Unit, Petah Tiqwa - Israel
[7] Univ Florida, Coll Med, Dept Pediat, Div Endocrinol, Gainesville, FL - USA
[8] Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97201 - USA
[9] Univ Chile, Inst Maternal & Child Res IDIMI, Santiago - Chile
[10] Inst Med Integrada Prof Fernando Figueira IMIP, Recife, PE - Brazil
[11] Univ Sao Paulo, Fac Med, Inst Crianca, Unidade Endocrinol Pediat, BR-01246903 Sao Paulo - Brazil
Número total de Afiliações: 11
Tipo de documento: Artigo Científico
Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 164, n. 5, p. 1204-1208, MAY 2014.
Citações Web of Science: 9
Resumo

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 (approximate to 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. (c) 2014 Wiley Periodicals, Inc. (AU)

Processo FAPESP: 13/03236-5 - Novas abordagens e metodologias na investigação genético-molecular dos distúrbios de crescimento e desenvolvimento puberal
Beneficiário:Alexander Augusto de Lima Jorge
Linha de fomento: Auxílio à Pesquisa - Temático