Antonia Martin-Gallardo's research while affiliated with Universidad Autónoma de Madrid and other places

... Once all the fragments of the original genome have been sequenced, the fragments are assembled into larger segments (McCombie & Martin-Gallardo 1994, Myers 1994, Rowen & Koop 1994. The fragments overlap, so an assembly is produced by aligning the overlapping regions of the sequences. ...

... The instrument used was built at the technical development laboratory of the Center for Genetics in Medicine, Washington University School of Medicine, St. Louis, Mo. The ends of the resultant fragments were repaired with a mixture of T4 DNA polymerase and Klenow fragment as described by Martin-Gallardo et al. (27). Fragments ranging from 1 to 2 kb were ligated into the HincII site of M13mp18. ...

... In response to this need, a new journal was launched in 1992-Nature Genetics. The inaugural volume of the new journal contained, among other contributions, two articles describing the results of the first human genome test sequencing projects using the Applied Biosystems 373 automated DNA sequencer 3,4 . These papers detailed the work of a team at the National Institute of Neurological Disorders and Stroke (NINDS) that involved sequencing three cosmids each from human chromosome 19 and chromosome 4. ...

... Some of the most severe regions were marked by repetitive elements or conserved gene family members in the genome, such as the neuroblastoma breakpoint family members scattered across chromosome 1p36-1q21 and the human olfactory receptor gene family [35]. Compared to its size, chromosome 19 contained overrepresented regions with widespread overlap between samples (70/72, 97 %), most notably being the killer-cell immunoglobulin-like receptor (KIR) genes located on 19q13 (Fig. 3A) (see [36][37][38]), and in general agreement with the current literature. ...

... Downward arrowheads indicate exon boundaries, and the exon number is marked to the right of each arrowhead at the 5' end of its respective exon. The exon boundaries between 27a and 27b and between 19a and 19b have also been determined by others (Martin-Gallardo et al., 1992;P. Robinson, pers. ...

... Genome biology has as a major goal the functional identification of a11 of the genes in the genome. Toward this end, large-scale sequencing of human (McCombie et al., 1992b; Martin-Gallardo et al., 1992), nematode (Sulston et al., 1992), and yeast (Oliver et al., 1992) genomic DNA has commenced, and many thousands of human (Adams et al., 1991; Adams et al., 1992) and nematode (McCombie et al., 1992a; Waterston et al., 1992) cDNAs have been partially sequenced. Plant genome biology is also directed toward functional identification of plant genes and, in addition, has a particular interest in comparisons between genomes. ...

... L'usage de cet indicateur statistique crée ainsi un nouveau cadre normatif pour évaluer les mérites réciproques de chacune des stratégies déployées en fonction de catégories telles que l'utilité, le coût relatif, les délais de réalisation. Ce nouveau cadre conduira à une remise en question du projet génome humain tel qu'il avait été initialement conçu [7], mais surtout à la repolarisation des activités de séquençage, en amenant différents acteurs à reprendre à leur compte cette technique, en particulier dans le secteur privé. ...

... [26][27][28] Therefore, the β3-containing GABA A Rs have been shown to have important roles in several pathophysiologic processes, such as epilepsy, 29,30 Angelman syndrome and Prader-Willi syndrome. 31,32 Consistent with the involvement of the critical glutamic residue E182 in β3 (E182 and E181 for β1 and β2, respectively), we identified in recombinant GABA A Rs, 11 the β3 E182G KI mice, had no effect on fertility but grew slightly slower, exhibit impaired glutamate-GABA A R crosstalk, as evidenced by the significantly reduced potentiation of GABA A R-mediated responses by exogenously applied glutamate and glutamate-like ligand AP5, in comparison with that in the wildtype counterparts. These results not only provide further evidence supporting the functional operation of the newly identified glutamate-GABA A R cross-talk in wild-type animals but also confirm the successful disruption of the cross-talk in the KI mice. ...

... There are 4 potential N-linked glycosylation sites (N) on the F 2 subunit and one on the F 1 subunit (Fig. 1). Several epitopes on the primary structure of the F glycoprotein has been identified (Gallardo et al., 1991) especially in the F 1 subunit. This was confirmed when one of the neutralization epitopes on the F 1 subunit (aa 221 to 236) was localized (Trudel et al., 1987). ...

... 9 The nearly exclusive occurrence of RTT in girls led the research community to predict that the disease is caused by an X-linked dominant mutation with lethality in males, the first part of which turned out to be true and the latter not. 3,[10][11][12][13][14] Extensive gene mapping of rare familial cases of RTT narrowed down the genetic region of interest to the Xq28 region, and in 1999 Ruthie Amir and colleagues identified a causative gene. [13][14][15][16][17][18] Using a systematic gene screening approach in sporadic cases of RTT, Amir et al identified disease-causing mutations in the MECP2 gene encoding methyl-CpGbinding protein 2 (MeCP2). ...