Martin S

References (9)

Title : The zebrafish reference genome sequence and its relationship to the human genome - Howe_2013_Nature_496_498
Author(s) : Howe K , Clark MD , Torroja CF , Torrance J , Berthelot C , Muffato M , Collins JE , Humphray S , McLaren K , Matthews L , Mclaren S , Sealy I , Caccamo M , Churcher C , Scott C , Barrett JC , Koch R , Rauch GJ , White S , Chow W , Kilian B , Quintais LT , Guerra-Assuncao JA , Zhou Y , Gu Y , Yen J , Vogel JH , Eyre T , Redmond S , Banerjee R , Chi J , Fu B , Langley E , Maguire SF , Laird GK , Lloyd D , Kenyon E , Donaldson S , Sehra H , Almeida-King J , Loveland J , Trevanion S , Jones M , Quail M , Willey D , Hunt A , Burton J , Sims S , McLay K , Plumb B , Davis J , Clee C , Oliver K , Clark R , Riddle C , Elliot D , Threadgold G , Harden G , Ware D , Begum S , Mortimore B , Kerry G , Heath P , Phillimore B , Tracey A , Corby N , Dunn M , Johnson C , Wood J , Clark S , Pelan S , Griffiths G , Smith M , Glithero R , Howden P , Barker N , Lloyd C , Stevens C , Harley J , Holt K , Panagiotidis G , Lovell J , Beasley H , Henderson C , Gordon D , Auger K , Wright D , Collins J , Raisen C , Dyer L , Leung K , Robertson L , Ambridge K , Leongamornlert D , McGuire S , Gilderthorp R , Griffiths C , Manthravadi D , Nichol S , Barker G , Whitehead S , Kay M , Brown J , Murnane C , Gray E , Humphries M , Sycamore N , Barker D , Saunders D , Wallis J , Babbage A , Hammond S , Mashreghi-Mohammadi M , Barr L , Martin S , Wray P , Ellington A , Matthews N , Ellwood M , Woodmansey R , Clark G , Cooper J , Tromans A , Grafham D , Skuce C , Pandian R , Andrews R , Harrison E , Kimberley A , Garnett J , Fosker N , Hall R , Garner P , Kelly D , Bird C , Palmer S , Gehring I , Berger A , Dooley CM , Ersan-Urun Z , Eser C , Geiger H , Geisler M , Karotki L , Kirn A , Konantz J , Konantz M , Oberlander M , Rudolph-Geiger S , Teucke M , Lanz C , Raddatz G , Osoegawa K , Zhu B , Rapp A , Widaa S , Langford C , Yang F , Schuster SC , Carter NP , Harrow J , Ning Z , Herrero J , Searle SM , Enright A , Geisler R , Plasterk RH , Lee C , Westerfield M , de Jong PJ , Zon LI , Postlethwait JH , Nusslein-Volhard C , Hubbard TJ , Roest Crollius H , Rogers J , Stemple DL
Ref : Nature , 496 :498 , 2013
Abstract : Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of zebrafish in the detailed investigation of vertebrate gene function and increasingly, the study of human genetic disease. However, for effective modelling of human genetic disease it is important to understand the extent to which zebrafish genes and gene structures are related to orthologous human genes. To examine this, we generated a high-quality sequence assembly of the zebrafish genome, made up of an overlapping set of completely sequenced large-insert clones that were ordered and oriented using a high-resolution high-density meiotic map. Detailed automatic and manual annotation provides evidence of more than 26,000 protein-coding genes, the largest gene set of any vertebrate so far sequenced. Comparison to the human reference genome shows that approximately 70% of human genes have at least one obvious zebrafish orthologue. In addition, the high quality of this genome assembly provides a clearer understanding of key genomic features such as a unique repeat content, a scarcity of pseudogenes, an enrichment of zebrafish-specific genes on chromosome 4 and chromosomal regions that influence sex determination.
ESTHER : Howe_2013_Nature_496_498
PubMedSearch : Howe_2013_Nature_496_498
PubMedID: 23594743
Gene_locus related to this paper: danre-1neur , danre-ABHD10b , danre-a9jrf7 , danre-d2x2g3 , danre-e7ezq9 , danre-e7ff77 , danre-ndr3 , danre-nlgn4a , danre-q1mti5 , danre-q6nyz4 , danre-q6p2u2 , danre-q7t359 , danre-q08c93 , danre-A2BGU9 , danre-f1q676 , danre-e7f0z8 , danre-e7ez27 , danre-e7f2w1 , danre-f1qid7 , danre-a0a0g2kru2 , danre-f1qla7 , danre-a9jr90 , danre-e7f070 , danre-f172a , danre-e7fb35 , danre-a7mbu9 , danre-f1qtr2

Title : A novel halophilic lipase, LipBL, showing high efficiency in the production of eicosapentaenoic acid (EPA) - Perez_2011_PLoS.One_6_e23325
Author(s) : Perez D , Martin S , Fernandez-Lorente G , Filice M , Guisan JM , Ventosa A , Garcia MT , Mellado E
Ref : PLoS ONE , 6 :e23325 , 2011
Abstract : BACKGROUND: Among extremophiles, halophiles are defined as microorganisms adapted to live and thrive in diverse extreme saline environments. These extremophilic microorganisms constitute the source of a number of hydrolases with great biotechnological applications. The interest to use extremozymes from halophiles in industrial applications is their resistance to organic solvents and extreme temperatures. Marinobacter lipolyticus SM19 is a moderately halophilic bacterium, isolated previously from a saline habitat in South Spain, showing lipolytic activity. METHODS AND FINDINGS: A lipolytic enzyme from the halophilic bacterium Marinobacter lipolyticus SM19 was isolated. This enzyme, designated LipBL, was expressed in Escherichia coli. LipBL is a protein of 404 amino acids with a molecular mass of 45.3 kDa and high identity to class C beta-lactamases. LipBL was purified and biochemically characterized. The temperature for its maximal activity was 80 degrees C and the pH optimum determined at 25 degrees C was 7.0, showing optimal activity without sodium chloride, while maintaining 20% activity in a wide range of NaCl concentrations. This enzyme exhibited high activity against short-medium length acyl chain substrates, although it also hydrolyzes olive oil and fish oil. The fish oil hydrolysis using LipBL results in an enrichment of free eicosapentaenoic acid (EPA), but not docosahexaenoic acid (DHA), relative to its levels present in fish oil. For improving the stability and to be used in industrial processes LipBL was immobilized in different supports. The immobilized derivatives CNBr-activated Sepharose were highly selective towards the release of EPA versus DHA. The enzyme is also active towards different chiral and prochiral esters. Exposure of LipBL to buffer-solvent mixtures showed that the enzyme had remarkable activity and stability in all organic solvents tested. CONCLUSIONS: In this study we isolated, purified, biochemically characterized and immobilized a lipolytic enzyme from a halophilic bacterium M. lipolyticus, which constitutes an enzyme with excellent properties to be used in the food industry, in the enrichment in omega-3 PUFAs.
ESTHER : Perez_2011_PLoS.One_6_e23325
PubMedSearch : Perez_2011_PLoS.One_6_e23325
PubMedID: 21853111

Title : Neuroprotective and neurological properties of Melissa officinalis - Lopez_2009_Neurochem.Res_34_1955
Author(s) : Lopez V , Martin S , Gomez-Serranillos MP , Carretero ME , Jager AK , Calvo MI
Ref : Neurochem Res , 34 :1955 , 2009
Abstract : Melissa officinalis has traditionally been used due to its effects on nervous system. Both methanolic and aqueous extracts were tested for protective effects on the PC12 cell line, free radical scavenging properties and neurological activities (inhibition of MAO-A and acetylcholinesterase enzymes and affinity to the GABA(A)-benzodiazepine receptor). The results suggest that the plant has a significant (P < 0.05) protective effect on hydrogen peroxide induced toxicity in PC12 cells. The radical scavenging properties were also investigated in cells and in cell free systems, where this plant was shown to be a good free radical scavenger. The MAO-A bioassay was also performed to detect possible antidepressant activities demonstrating that both extracts inhibited this enzyme, which has a key role in neurotransmitters metabolism. However, no activity was detected in the acetylcholinesterase and GABA assays. In general, the methanolic extract was more effective than the aqueous.
ESTHER : Lopez_2009_Neurochem.Res_34_1955
PubMedSearch : Lopez_2009_Neurochem.Res_34_1955
PubMedID: 19760174

Title : The DNA sequence and biological annotation of human chromosome 1 - Gregory_2006_Nature_441_315
Author(s) : Gregory SG , Barlow KF , McLay KE , Kaul R , Swarbreck D , Dunham A , Scott CE , Howe KL , Woodfine K , Spencer CC , Jones MC , Gillson C , Searle S , Zhou Y , Kokocinski F , McDonald L , Evans R , Phillips K , Atkinson A , Cooper R , Jones C , Hall RE , Andrews TD , Lloyd C , Ainscough R , Almeida JP , Ambrose KD , Anderson F , Andrew RW , Ashwell RI , Aubin K , Babbage AK , Bagguley CL , Bailey J , Beasley H , Bethel G , Bird CP , Bray-Allen S , Brown JY , Brown AJ , Buckley D , Burton J , Bye J , Carder C , Chapman JC , Clark SY , Clarke G , Clee C , Cobley V , Collier RE , Corby N , Coville GJ , Davies J , Deadman R , Dunn M , Earthrowl M , Ellington AG , Errington H , Frankish A , Frankland J , French L , Garner P , Garnett J , Gay L , Ghori MR , Gibson R , Gilby LM , Gillett W , Glithero RJ , Grafham DV , Griffiths C , Griffiths-Jones S , Grocock R , Hammond S , Harrison ES , Hart E , Haugen E , Heath PD , Holmes S , Holt K , Howden PJ , Hunt AR , Hunt SE , Hunter G , Isherwood J , James R , Johnson C , Johnson D , Joy A , Kay M , Kershaw JK , Kibukawa M , Kimberley AM , King A , Knights AJ , Lad H , Laird G , Lawlor S , Leongamornlert DA , Lloyd DM , Loveland J , Lovell J , Lush MJ , Lyne R , Martin S , Mashreghi-Mohammadi M , Matthews L , Matthews NS , Mclaren S , Milne S , Mistry S , Moore MJ , Nickerson T , O'Dell CN , Oliver K , Palmeiri A , Palmer SA , Parker A , Patel D , Pearce AV , Peck AI , Pelan S , Phelps K , Phillimore BJ , Plumb R , Rajan J , Raymond C , Rouse G , Saenphimmachak C , Sehra HK , Sheridan E , Shownkeen R , Sims S , Skuce CD , Smith M , Steward C , Subramanian S , Sycamore N , Tracey A , Tromans A , Van Helmond Z , Wall M , Wallis JM , White S , Whitehead SL , Wilkinson JE , Willey DL , Williams H , Wilming L , Wray PW , Wu Z , Coulson A , Vaudin M , Sulston JE , Durbin R , Hubbard T , Wooster R , Dunham I , Carter NP , McVean G , Ross MT , Harrow J , Olson MV , Beck S , Rogers J , Bentley DR , Banerjee R , Bryant SP , Burford DC , Burrill WD , Clegg SM , Dhami P , Dovey O , Faulkner LM , Gribble SM , Langford CF , Pandian RD , Porter KM , Prigmore E
Ref : Nature , 441 :315 , 2006
Abstract : The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.
ESTHER : Gregory_2006_Nature_441_315
PubMedSearch : Gregory_2006_Nature_441_315
PubMedID: 16710414
Gene_locus related to this paper: human-LYPLAL1 , human-PPT1 , human-TMCO4 , human-TMEM53

Title : [Primary care in general internal medicine: relevant information in 2005] - Bodenmann_2006_Rev.Med.Suisse_2_274, 276
Author(s) : Bodenmann P , Pasche O , Amstutz V , Martin S , Michaelis-Conus K , Favrat B
Ref : Rev Med Suisse , 2 :274, 276 , 2006
Abstract : During the year 2005, the chief residents of the University Medical Outpatient Clinic of Lausanne have done a database of useful articles for daily practice, scientifically validated and with excellent didactic quality, from 10 electronic journals. They have used those selected articles in personal meetings between the chief residents on a regular basis and the possibility to access the database by the junior physicians. Six of these articles concerning different topics (depression, tuberculosis detection, anticoagulation at home, cholinesterase inhibitors, insomnia and therapies, transdermal nitroglycerin and tendinopathies) are presented.
ESTHER : Bodenmann_2006_Rev.Med.Suisse_2_274, 276
PubMedSearch : Bodenmann_2006_Rev.Med.Suisse_2_274, 276
PubMedID: 16503043

Title : Daptomycin biosynthesis in Streptomyces roseosporus: cloning and analysis of the gene cluster and revision of peptide stereochemistry - Miao_2005_Microbiology_151_1507
Author(s) : Miao V , Coeffet-Legal MF , Brian P , Brost R , Penn J , Whiting A , Martin S , Ford R , Parr I , Bouchard M , Silva CJ , Wrigley SK , Baltz RH
Ref : Microbiology , 151 :1507 , 2005
Abstract : Daptomycin is a 13 amino acid, cyclic lipopeptide produced by a non-ribosomal peptide synthetase (NRPS) mechanism in Streptomyces roseosporus. A 128 kb region of S. roseosporus DNA was cloned and verified by heterologous expression in Streptomyces lividans to contain the daptomycin biosynthetic gene cluster (dpt). The cloned region was completely sequenced and three genes (dptA, dptBC, dptD) encoding the three subunits of an NRPS were identified. The catalytic domains in the subunits, predicted to couple five, six or two amino acids, respectively, included a novel activation domain and amino-acid-binding pocket for incorporating the unusual amino acid l-kynurenine (Kyn), three types of condensation domains and an extra epimerase domain (E-domain) in the second module. Novel genes (dptE, dptF) whose products likely work in conjunction with a unique condensation domain to acylate the first amino acid, as well as other genes (dptI, dptJ) probably involved in supply of the non-proteinogenic amino acids l-3-methylglutamic acid and Kyn, were located next to the NRPS genes. The unexpected E-domain suggested that daptomycin would have d-Asn, rather than l-Asn, as originally assigned, and this was confirmed by comparing stereospecific synthetic peptides and the natural product both chemically and microbiologically.
ESTHER : Miao_2005_Microbiology_151_1507
PubMedSearch : Miao_2005_Microbiology_151_1507
PubMedID: 15870461
Gene_locus related to this paper: strfl-q50ec6 , strfl-q50ec8

Title : DNA sequence and analysis of human chromosome 9 - Humphray_2004_Nature_429_369
Author(s) : Humphray SJ , Oliver K , Hunt AR , Plumb RW , Loveland JE , Howe KL , Andrews TD , Searle S , Hunt SE , Scott CE , Jones MC , Ainscough R , Almeida JP , Ambrose KD , Ashwell RI , Babbage AK , Babbage S , Bagguley CL , Bailey J , Banerjee R , Barker DJ , Barlow KF , Bates K , Beasley H , Beasley O , Bird CP , Bray-Allen S , Brown AJ , Brown JY , Burford D , Burrill W , Burton J , Carder C , Carter NP , Chapman JC , Chen Y , Clarke G , Clark SY , Clee CM , Clegg S , Collier RE , Corby N , Crosier M , Cummings AT , Davies J , Dhami P , Dunn M , Dutta I , Dyer LW , Earthrowl ME , Faulkner L , Fleming CJ , Frankish A , Frankland JA , French L , Fricker DG , Garner P , Garnett J , Ghori J , Gilbert JG , Glison C , Grafham DV , Gribble S , Griffiths C , Griffiths-Jones S , Grocock R , Guy J , Hall RE , Hammond S , Harley JL , Harrison ES , Hart EA , Heath PD , Henderson CD , Hopkins BL , Howard PJ , Howden PJ , Huckle E , Johnson C , Johnson D , Joy AA , Kay M , Keenan S , Kershaw JK , Kimberley AM , King A , Knights A , Laird GK , Langford C , Lawlor S , Leongamornlert DA , Leversha M , Lloyd C , Lloyd DM , Lovell J , Martin S , Mashreghi-Mohammadi M , Matthews L , Mclaren S , McLay KE , McMurray A , Milne S , Nickerson T , Nisbett J , Nordsiek G , Pearce AV , Peck AI , Porter KM , Pandian R , Pelan S , Phillimore B , Povey S , Ramsey Y , Rand V , Scharfe M , Sehra HK , Shownkeen R , Sims SK , Skuce CD , Smith M , Steward CA , Swarbreck D , Sycamore N , Tester J , Thorpe A , Tracey A , Tromans A , Thomas DW , Wall M , Wallis JM , West AP , Whitehead SL , Willey DL , Williams SA , Wilming L , Wray PW , Young L , Ashurst JL , Coulson A , Blocker H , Durbin R , Sulston JE , Hubbard T , Jackson MJ , Bentley DR , Beck S , Rogers J , Dunham I
Ref : Nature , 429 :369 , 2004
Abstract : Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.
ESTHER : Humphray_2004_Nature_429_369
PubMedSearch : Humphray_2004_Nature_429_369
PubMedID: 15164053
Gene_locus related to this paper: human-CEL

Title : The DNA sequence and analysis of human chromosome 13 - Dunham_2004_Nature_428_522
Author(s) : Dunham A , Matthews LH , Burton J , Ashurst JL , Howe KL , Ashcroft KJ , Beare DM , Burford DC , Hunt SE , Griffiths-Jones S , Jones MC , Keenan SJ , Oliver K , Scott CE , Ainscough R , Almeida JP , Ambrose KD , Andrews DT , Ashwell RI , Babbage AK , Bagguley CL , Bailey J , Bannerjee R , Barlow KF , Bates K , Beasley H , Bird CP , Bray-Allen S , Brown AJ , Brown JY , Burrill W , Carder C , Carter NP , Chapman JC , Clamp ME , Clark SY , Clarke G , Clee CM , Clegg SC , Cobley V , Collins JE , Corby N , Coville GJ , Deloukas P , Dhami P , Dunham I , Dunn M , Earthrowl ME , Ellington AG , Faulkner L , Frankish AG , Frankland J , French L , Garner P , Garnett J , Gilbert JG , Gilson CJ , Ghori J , Grafham DV , Gribble SM , Griffiths C , Hall RE , Hammond S , Harley JL , Hart EA , Heath PD , Howden PJ , Huckle EJ , Hunt PJ , Hunt AR , Johnson C , Johnson D , Kay M , Kimberley AM , King A , Laird GK , Langford CJ , Lawlor S , Leongamornlert DA , Lloyd DM , Lloyd C , Loveland JE , Lovell J , Martin S , Mashreghi-Mohammadi M , McLaren SJ , McMurray A , Milne S , Moore MJ , Nickerson T , Palmer SA , Pearce AV , Peck AI , Pelan S , Phillimore B , Porter KM , Rice CM , Searle S , Sehra HK , Shownkeen R , Skuce CD , Smith M , Steward CA , Sycamore N , Tester J , Thomas DW , Tracey A , Tromans A , Tubby B , Wall M , Wallis JM , West AP , Whitehead SL , Willey DL , Wilming L , Wray PW , Wright MW , Young L , Coulson A , Durbin R , Hubbard T , Sulston JE , Beck S , Bentley DR , Rogers J , Ross MT
Ref : Nature , 428 :522 , 2004
Abstract : Chromosome 13 is the largest acrocentric human chromosome. It carries genes involved in cancer including the breast cancer type 2 (BRCA2) and retinoblastoma (RB1) genes, is frequently rearranged in B-cell chronic lymphocytic leukaemia, and contains the DAOA locus associated with bipolar disorder and schizophrenia. We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. Additionally, 105 putative non-coding RNA genes were found. Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb.
ESTHER : Dunham_2004_Nature_428_522
PubMedSearch : Dunham_2004_Nature_428_522
PubMedID: 15057823
Gene_locus related to this paper: human-ESD , human-TEX30

Title : The DNA sequence and analysis of human chromosome 6 - Mungall_2003_Nature_425_805
Author(s) : Mungall AJ , Palmer SA , Sims SK , Edwards CA , Ashurst JL , Wilming L , Jones MC , Horton R , Hunt SE , Scott CE , Gilbert JG , Clamp ME , Bethel G , Milne S , Ainscough R , Almeida JP , Ambrose KD , Andrews TD , Ashwell RI , Babbage AK , Bagguley CL , Bailey J , Banerjee R , Barker DJ , Barlow KF , Bates K , Beare DM , Beasley H , Beasley O , Bird CP , Blakey S , Bray-Allen S , Brook J , Brown AJ , Brown JY , Burford DC , Burrill W , Burton J , Carder C , Carter NP , Chapman JC , Clark SY , Clark G , Clee CM , Clegg S , Cobley V , Collier RE , Collins JE , Colman LK , Corby NR , Coville GJ , Culley KM , Dhami P , Davies J , Dunn M , Earthrowl ME , Ellington AE , Evans KA , Faulkner L , Francis MD , Frankish A , Frankland J , French L , Garner P , Garnett J , Ghori MJ , Gilby LM , Gillson CJ , Glithero RJ , Grafham DV , Grant M , Gribble S , Griffiths C , Griffiths M , Hall R , Halls KS , Hammond S , Harley JL , Hart EA , Heath PD , Heathcott R , Holmes SJ , Howden PJ , Howe KL , Howell GR , Huckle E , Humphray SJ , Humphries MD , Hunt AR , Johnson CM , Joy AA , Kay M , Keenan SJ , Kimberley AM , King A , Laird GK , Langford C , Lawlor S , Leongamornlert DA , Leversha M , Lloyd CR , Lloyd DM , Loveland JE , Lovell J , Martin S , Mashreghi-Mohammadi M , Maslen GL , Matthews L , Mccann OT , McLaren SJ , McLay K , McMurray A , Moore MJ , Mullikin JC , Niblett D , Nickerson T , Novik KL , Oliver K , Overton-Larty EK , Parker A , Patel R , Pearce AV , Peck AI , Phillimore B , Phillips S , Plumb RW , Porter KM , Ramsey Y , Ranby SA , Rice CM , Ross MT , Searle SM , Sehra HK , Sheridan E , Skuce CD , Smith S , Smith M , Spraggon L , Squares SL , Steward CA , Sycamore N , Tamlyn-Hall G , Tester J , Theaker AJ , Thomas DW , Thorpe A , Tracey A , Tromans A , Tubby B , Wall M , Wallis JM , West AP , White SS , Whitehead SL , Whittaker H , Wild A , Willey DJ , Wilmer TE , Wood JM , Wray PW , Wyatt JC , Young L , Younger RM , Bentley DR , Coulson A , Durbin R , Hubbard T , Sulston JE , Dunham I , Rogers J , Beck S
Ref : Nature , 425 :805 , 2003
Abstract : Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.
ESTHER : Mungall_2003_Nature_425_805
PubMedSearch : Mungall_2003_Nature_425_805
PubMedID: 14574404
Gene_locus related to this paper: human-ABHD16A , human-BPHL , human-FAM135A , human-PRSS16 , human-SERAC1