Maupin R

References (3)

Title : Generation and annotation of the DNA sequences of human chromosomes 2 and 4 - Hillier_2005_Nature_434_724
Author(s) : Hillier LW , Graves TA , Fulton RS , Fulton LA , Pepin KH , Minx P , Wagner-McPherson C , Layman D , Wylie K , Sekhon M , Becker MC , Fewell GA , Delehaunty KD , Miner TL , Nash WE , Kremitzki C , Oddy L , Du H , Sun H , Bradshaw-Cordum H , Ali J , Carter J , Cordes M , Harris A , Isak A , Van Brunt A , Nguyen C , Du F , Courtney L , Kalicki J , Ozersky P , Abbott S , Armstrong J , Belter EA , Caruso L , Cedroni M , Cotton M , Davidson T , Desai A , Elliott G , Erb T , Fronick C , Gaige T , Haakenson W , Haglund K , Holmes A , Harkins R , Kim K , Kruchowski SS , Strong CM , Grewal N , Goyea E , Hou S , Levy A , Martinka S , Mead K , McLellan MD , Meyer R , Randall-Maher J , Tomlinson C , Dauphin-Kohlberg S , Kozlowicz-Reilly A , Shah N , Swearengen-Shahid S , Snider J , Strong JT , Thompson J , Yoakum M , Leonard S , Pearman C , Trani L , Radionenko M , Waligorski JE , Wang C , Rock SM , Tin-Wollam AM , Maupin R , Latreille P , Wendl MC , Yang SP , Pohl C , Wallis JW , Spieth J , Bieri TA , Berkowicz N , Nelson JO , Osborne J , Ding L , Sabo A , Shotland Y , Sinha P , Wohldmann PE , Cook LL , Hickenbotham MT , Eldred J , Williams D , Jones TA , She X , Ciccarelli FD , Izaurralde E , Taylor J , Schmutz J , Myers RM , Cox DR , Huang X , McPherson JD , Mardis ER , Clifton SW , Warren WC , Chinwalla AT , Eddy SR , Marra MA , Ovcharenko I , Furey TS , Miller W , Eichler EE , Bork P , Suyama M , Torrents D , Waterston RH , Wilson RK
Ref : Nature , 434 :724 , 2005
Abstract : Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.
ESTHER : Hillier_2005_Nature_434_724
PubMedSearch : Hillier_2005_Nature_434_724
PubMedID: 15815621
Gene_locus related to this paper: human-ABHD1 , human-LDAH , human-ABHD18 , human-KANSL3 , human-PGAP1 , human-PREPL

Title : The DNA sequence of human chromosome 7 - Hillier_2003_Nature_424_157
Author(s) : Hillier LW , Fulton RS , Fulton LA , Graves TA , Pepin KH , Wagner-McPherson C , Layman D , Maas J , Jaeger S , Walker R , Wylie K , Sekhon M , Becker MC , O'Laughlin MD , Schaller ME , Fewell GA , Delehaunty KD , Miner TL , Nash WE , Cordes M , Du H , Sun H , Edwards J , Bradshaw-Cordum H , Ali J , Andrews S , Isak A , Vanbrunt A , Nguyen C , Du F , Lamar B , Courtney L , Kalicki J , Ozersky P , Bielicki L , Scott K , Holmes A , Harkins R , Harris A , Strong CM , Hou S , Tomlinson C , Dauphin-Kohlberg S , Kozlowicz-Reilly A , Leonard S , Rohlfing T , Rock SM , Tin-Wollam AM , Abbott A , Minx P , Maupin R , Strowmatt C , Latreille P , Miller N , Johnson D , Murray J , Woessner JP , Wendl MC , Yang SP , Schultz BR , Wallis JW , Spieth J , Bieri TA , Nelson JO , Berkowicz N , Wohldmann PE , Cook LL , Hickenbotham MT , Eldred J , Williams D , Bedell JA , Mardis ER , Clifton SW , Chissoe SL , Marra MA , Raymond C , Haugen E , Gillett W , Zhou Y , James R , Phelps K , Iadanoto S , Bubb K , Simms E , Levy R , Clendenning J , Kaul R , Kent WJ , Furey TS , Baertsch RA , Brent MR , Keibler E , Flicek P , Bork P , Suyama M , Bailey JA , Portnoy ME , Torrents D , Chinwalla AT , Gish WR , Eddy SR , McPherson JD , Olson MV , Eichler EE , Green ED , Waterston RH , Wilson RK
Ref : Nature , 424 :157 , 2003
Abstract : Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.
ESTHER : Hillier_2003_Nature_424_157
PubMedSearch : Hillier_2003_Nature_424_157
PubMedID: 12853948
Gene_locus related to this paper: human-ABHD11 , human-ACHE , human-CPVL , human-DPP6 , human-MEST

Title : The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes - Skaletsky_2003_Nature_423_825
Author(s) : Skaletsky H , Kuroda-Kawaguchi T , Minx PJ , Cordum HS , Hillier L , Brown LG , Repping S , Pyntikova T , Ali J , Bieri T , Chinwalla A , Delehaunty A , Delehaunty K , Du H , Fewell G , Fulton L , Fulton R , Graves T , Hou SF , Latrielle P , Leonard S , Mardis E , Maupin R , McPherson J , Miner T , Nash W , Nguyen C , Ozersky P , Pepin K , Rock S , Rohlfing T , Scott K , Schultz B , Strong C , Tin-Wollam A , Yang SP , Waterston RH , Wilson RK , Rozen S , Page DC
Ref : Nature , 423 :825 , 2003
Abstract : The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length. Here, we report that the MSY is a mosaic of heterochromatic sequences and three classes of euchromatic sequences: X-transposed, X-degenerate and ampliconic. These classes contain all 156 known transcription units, which include 78 protein-coding genes that collectively encode 27 distinct proteins. The X-transposed sequences exhibit 99% identity to the X chromosome. The X-degenerate sequences are remnants of ancient autosomes from which the modern X and Y chromosomes evolved. The ampliconic class includes large regions (about 30% of the MSY euchromatin) where sequence pairs show greater than 99.9% identity, which is maintained by frequent gene conversion (non-reciprocal transfer). The most prominent features here are eight massive palindromes, at least six of which contain testis genes.
ESTHER : Skaletsky_2003_Nature_423_825
PubMedSearch : Skaletsky_2003_Nature_423_825
PubMedID: 12815422
Gene_locus related to this paper: human-NLGN4Y