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| Morgan,Marcos. |
| The clustered protocadherins (Pcdhs) are single-pass transmembrane proteins that constitute a subfamily within the cadherin superfamily. In mammals, they are arranged in three consecutive clusters named alpha, beta, and gamma. These proteins are expressed in the nervous system and are targeted to mature synapses. Interestingly, different neurons express different subsets of isoforms; however, little is known about the functions and expression of the clustered Pcdhs. Previous phylogenetic analyses that compared rodent and human clusters postulated the recent occurrence of gene duplication events. Using standard phylogenetic methods, I confirmed the prior observations, and I show that duplications are likely to occur through unequal crossing-over events... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Protocadherin; Gene birth; Gene conversion; Cluster evolution. |
| Ano: 2008 |
URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0327-95452008000100002 |
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| Carrasco Salas,P; Palma Milla,C; López Siles,J. |
| Copy number analysis of the SMN (Survival Motor Neuron) genes in healthy individuals with no history of spinal muscular atrophy (SMA) is important to assess carrier frequency, the frequency of patients with two copies of SMN1 on one chromosome (a factor that could lead to a false-negative result when testing for SMA carriers) and the mechanisms responsible for these chromosomes with two copies of SMN1. We retrospectively analyzed the copy number of SMN1 and SMN2 genes detected in blood samples of 119 gamete donors by Multiplex Ligation- Dependent Probe Amplification (MLPA) assay during the last two years. The number of donors with a heterozygous deletion of exon 7 of SMN1 was 1 in 59 samples (1.7 %). It was estimated that 5.4 % of the studied alleles... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: SMN genes; SMA; Carrier; Gene conversion. |
| Ano: 2015 |
URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332015000100001 |
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